169282|Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.

12242541|Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

9686377|Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

2016085|A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis.

7591957|Gene expressions of protein tyrosine phosphatases in regenerating rat liver and rat ascites hepatoma cells.

7591964|Granulocyte-macrophage colony-stimulating factor augments lymphokine-activated killer activity from pleural cavity mononuclear cells of lung cancer patients without malignant effusion.

11948122|Polymorphisms in the promoter region of the neutrophil elastase gene are associated with lung cancer development.

12367784|Factor VIII gene polymorphisms in North Indian population: a consensus algorithm for carrier analysis of hemophilia A.

8276392|A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.

9892189|Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

2535908|The herpes simplex virus type 1 immediate-early protein ICP27 is obligately required for the accumulation of a cellular protein during viral infection.

11288716|Submicroscopic deletions of     the APC gene: a frequent     cause of familial     adenomatous polyposis that     may be overlooked by     conventional mutation     scanning.

7892884|Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer.

15935954|Interleukin-1-deficient mice exhibit high sensitivity to gut-derived sepsis caused by Pseudomonas aeruginosa.

9501094|Cooperative interaction of ets-1 with USF-1 required for HIV-1 enhancer activity in T cells.

9686422|The Bal I and Msp I polymorphisms in the dopamine D3 receptor gene display, linkage disequilibrium with each other but no association with Tourette syndrome.

15564199|Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.

12601293|A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population.

9054694|Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis.

1609793|Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

12124731|Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.

15087667|c-kit and PDGFRA mutations in extragastrointestinal stromal tumor (gastrointestinal stromal tumor of the soft tissue).

3692135|Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.

14761893|Vacuolar H+-ATPase in human breast cancer cells with distinct metastatic potential: distribution and functional activity.

3787263|Lipoprotein mutations in pigs are associated with elevated plasma cholesterol and atherosclerosis.

9927191|Expression of BCR - ABL in M1 myeloid leukemia cells induces differentiation without arresting proliferation.

11193766|Human uteroglobin gene polymorphisms and genetic susceptibility to asthma.

10744032|Transforming growth factor-beta1 stimulates contraction of human glioblastoma cell-mediated collagen lattice through enhanced alpha2 integrin expression.

2984925|DNA restriction fragment analysis of the proopiomelanocortin gene in schizophrenia and bipolar disorders.

7197466|Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq.

2771957|Alterations in the p53 gene and the clonal evolution of the blast crisis of chronic myelocytic leukemia.

14974928|Variants of uncoupling protein-2 gene and obesity: interaction with peroxisome proliferator-activated receptorgamma2.

12874596|Neuregulin 1 in schizophrenia: out of Iceland.

9443444|connexin43 gene mutations and heterotaxy.

8033419|Polymorphism of tumour necrosis factor-alpha (TNF-alpha) at position -308 in relation to ankylosing spondylitis.

9119740|Demonstration of ras and p53 gene mutations in carcinomas in the forestomach and intestine and soft tissue sarcomas induced by N-methyl-N-nitrosourea in the rat.

2046384|Immunocytochemical identification of nuclear estrogen-receptors in human acute myeloid leukemia.

9538513|Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

11251583|Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.

10862050|RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13).

15203284|Forced expression of AML1-AMP19, a fusion transcript generated from a radiation-associated t(19;21) leukemia, blocks myeloid differentiation.

1845771|HIV-1 infection does not induce tumor necrosis factor-alpha or interferon-beta gene transcription.

10744171|The contribution of factor VII gene polymorphisms to longevity in Scottish nonagenarians.

11045836|Human leukocyte antigen class II alleles in white Brazilian patients with celiac disease.

2164382|Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.

10899427|Presenilin structure, function and role in Alzheimer disease.

8570215|Expression of either the TCL1 oncogene, or transcripts from its homologue MTCP1/c6.1B, in leukaemic and non-leukaemic T cells from ataxia telangiectasia patients.

8723097|A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

11464627|[677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results]

8570222|Detection and subcellular localization of an AML1 chimeric protein in the t(8;21) positive acute myeloid leukemia.

12939655|Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.

11221543|The influence of age and gender on HLA-DR in Chinese child-onset type 1 diabetes mellitus patients.

9598881|Effect of vitamin D receptor gene alleles on bone loss in early rheumatoid arthritis.

8304336|Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

9839505|Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation.

9920112|Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.

9591629|Distinct patterns of deletion on 10p and 10q suggest involvement of multiple tumor suppressor genes in the development of astrocytic gliomas of different malignancy grades.

1569197|A variant insulin promoter in non-insulin-dependent diabetes mellitus.

1356169|Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.

8364589|A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.

8216504|Relation of lipoprotein(a) to coronary heart disease and duplexsonographic findings of the carotid arteries in heterozygous familial hypercholesterolemia.

15564464|Insertion of a classical nuclear import signal into the matrix domain of the Rous sarcoma virus Gag protein interferes with virus replication.

12631620|Mechanisms of proteasome inhibitor PS-341-induced G(2)-M-phase arrest and apoptosis in human non-small cell lung cancer cell lines.

1301932|Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.

10686557|Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase.

9714438|Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

11103774|t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF).

15358739|Prediction of bone mineral density from vitamin D receptor polymorphisms is uncertain in representative samples of Japanese Women. The Japanese Population-based Osteoporosis (JPOS) Study.

7491357|[Inherited AMP-deaminase deficiency--molecular basis of the defect]

8394752|Acute promyelocytic leukemia: clinical relevance of two major PML-RAR alpha isoforms and detection of minimal residual disease by retrotranscriptase/polymerase chain reaction to predict relapse.

12814669|DD3(PCA3)-based molecular urine analysis for the diagnosis of prostate cancer.

8510223|Genomic organization and expression of Tpl-2 in normal cells and Moloney murine leukemia virus-induced rat T-cell lymphomas: activation by provirus insertion.

9950363|Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.

12814692|Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children.

12149233|An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria.

11823451|Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.

11158011|Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 Diabetes.

15057961|Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.

8605362|The t(2;5) chromosomal translocation is not a common feature of primary cutaneous CD30+ lymphoproliferative disorders: comparison with anaplastic large-cell lymphoma of nodal origin.

10443546|Effects of pilocarpine- and kainate-induced seizures on thyrotropin-releasing hormone biosynthesis and receptors in the rat brain.

14668429|Cell surface expression of an endoplasmic reticulum resident heat shock protein gp96 triggers MyD88-dependent systemic autoimmune diseases.

12207005|Codon 12 and codon 13 mutations at the K-ras gene induce different soft tissue sarcoma types in nude mice.

12608943|Effectiveness of alendronate treatment in postmenopausal women with osteoporosis: relationship with BsmI vitamin D receptor genotypes.

8577720|Mutation detection by highly sensitive methods indicates that p53 gene mutations in breast cancer can have important prognostic value.

14601029|Genome-wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1.

11522646|Role of HPC2/ELAC2 in hereditary prostate cancer.

1356317|Alcoholism and the D2 receptor gene.

15115768|GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

8878611|Novel mutation (K70E) in human immunodeficiency virus type 1 reverse transcriptase confers decreased susceptibility to 9-[2-(phosphonomethoxy)ethyl]adenine in vitro.

9626767|Recent insights into neurofibromatosis type 1: clear genetic progress.

11434877|Possible association of beta2- and beta3-adrenergic receptor gene polymorphisms with susceptibility to breast cancer.

11221832|Triggering of antitumor activity through melanoma-specific transduction of a constitutively active tumor necrosis factor (TNF) R1 chimeric receptor in the absence of TNF-alpha.

14962108|The ultraviolet fingerprint dominates the mutational spectrum of the p53 and Ha-ras genes in psoralen + ultraviolet A keratoses from psoriasis patients.

14608356|An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.

12112000|High levels of MMP-1 expression in the absence of the 2G single nucleotide polymorphism is mediated by p38 and ERK1/2 mitogen-activated protein kinases in VMM5 melanoma cells.

1444203|An oligomer complementary to the 5' end region of MDR1 gene decreases resistance to doxorubicin of human adenocarcinoma-resistant cells.

11978855|Stress-induced deoxycorticosterone-derived neurosteroids modulate GABA(A) receptor function and seizure susceptibility.

8128961|Apolipoprotein E: risk factor for Alzheimer disease.

12237241|The BCR/ABL-extra signal fluorescence in situ hybridization system reliably detects deletions upstream of the ABL locus: implications for reporting of results and followup of chronic myelogenous leukemia patients.

2104538|Enhanced poly(adenosine diphosphate ribose) polymerase activity and gene expression in Ewing's sarcoma cells.

7556527|Functional and phenotypic upregulation of CD13/aminopeptidase-N on precursor-B acute lymphoblastic leukemia after in vitro stimulation.

9498104|Relationship of p53 molecular abnormalities with flow cytometry and growth factor receptor content in lung cancer.

11181085|A novel mutation lacking the bromodomain of the transcriptional coactivator p300 in the SiHa cervical carcinoma cell line.

1928099|Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

15770500|Intragenic linkage disequilibrium structure of the human perilipin gene (PLIN) and haplotype association with increased obesity risk in a multiethnic Asian population.

12355215|Deletion of the FHIT gene in human colorectal cancer is independent of high-risk HPV infection.

12774041|Mutations in PAX1 may be associated with Klippel-Feil syndrome.

9799084|The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type.

1680208|IgA nephropathy in blacks: studies of IgA2 allotypes and clinical course.

15050970|Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

12899245|Molecular and functional characterization of the extracellular calcium-sensing receptor in human colon cancer cells.

7915220|Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.

558741|Increased norepinephrine levels and decreased dopamine-beta-hydroxylase activity in primary autism.

14756543|TP53 codon 72 polymorphism does not affect risk of cervical cancer in patients from The Gambia.

1745268|[Analysis of deletion mutations of the dystrophin gene by the multiplex polymerase chain reaction method in the diagnosis of Duchenne muscular dystrophy]

15351845|The effect of vascular smooth muscle cell-targeted expression of tissue factor pathway inhibitor in a murine model of arterial thrombosis.

15629882|CBLB variants in type 1 diabetes and their genetic interaction with CTLA4.

12385441|Celiac disease and HLA DQ in patients with IgA nephropathy.

9197423|Association of a deletion polymorphism of the angiotensin-converting enzyme gene with left-ventricular hypertrophy in Japanese women with essential hypertension; multicenter study of 1,919 subjects.

7739617|The pattern of mutations induced by neocarzinostatin and methyl methanesulfonate in the ataxia telangiectasia-like Chinese hamster cell line V-E5.

8871650|Control of endogenous mouse mammary tumor virus superantigen expression in SJL lymphomas by a promoter within the env region.

8996837|[Analysis of hepatitis C virus (HCV) genotypes in hepatocellular carcinoma]

1356667|Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.

9920650|Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

11971878|Mutations in TITF-1 are associated with benign hereditary chorea.

8723692|Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.

11093438|A study of C4AQ0 and MHC haplotypes in Icelandic multicase families with systemic lupus erythematosus.

14668801|BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency.

14962443|Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

9042267|K-ras gene mutation is a useful predictor of the survival of early stage colorectal cancers.

8811505|Synaptic pathology in Alzheimer's disease: relation to severity of dementia, but not to senile plaques, neurofibrillary tangles, or the ApoE4 allele.

9862964|The ability of the HIV-1 AAUAAA signal to bind polyadenylation factors is controlled by local RNA structure.

11304041|Alternative EWS-FLI1 fusion gene and MIC2 expression in peripheral and central primitive neuroectodermal tumors.

9438201|Insulin-dependent diabetes mellitus in non-DR3/non-DR4 subjects.

11121176|The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine.

463876|Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

15534913|Genetic alterations and reduced expression of tumor suppressor p33(ING1b) in human exocrine pancreatic carcinoma.

11121180|No association between the dopamine D3 receptor Bal I polymorphism and schizophrenia in a family-based study of a Palestinian Arab population.

16249420|Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

12054649|Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure.

7526792|Multiple effects of interferon on the replication of human immunodeficiency virus type 1.

12892231|Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification.

2370860|The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.

8021009|Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension.

12714139|Deep venous thrombosis associated with factor V Leiden, G20210A mutation, and protein S deficiency.

9042399|Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene.

11158582|Mouse model of congenital polycythemia: Homologous replacement of murine gene by mutant human erythropoietin receptor gene.

7887887|The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments.

16249515|Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

8565077|AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis.

7526884|Oestrogen and epidermal growth factor down-regulate erbB-2 oncogene protein expression in breast cancer cells by different mechanisms.

11605060|Absence of Bcl10 gene mutations in Ewing's sarcomas.

15953854|Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema.

1951320|Application of a monoclonal antibody specific for the delta chain of hemoglobin A2 in the diagnosis of beta thalassemia.

11188763|[Insulin-dependent diabetes mellitus as a possible sequelae of treatment of viral hepatitis with interferon-alpha] .

3261189|The association between ankylosing spondylitis, acute anterior uveitis and HLA-B27: the results of a Swiss family study.

8081396|A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband.

11723072|A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.

7526932|The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

9049797|Assessment of in vitro interleukin-2-producing capacity of peripheral blood lymphocytes from patients with periodontitis.

12084976|Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome.

9468576|Prognostic significance of c-myc mRNA expression assessed by semi-quantitative RT-PCR in patients with colorectal cancer.

15740934|Analysis of IGG and IGG4 in HIV-1 seropositive patients and correlation with biological and genetic markers.

16096857|HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study.

11517301|The nuclear factor kappa B (NF-kappa B): a potential therapeutic target for estrogen receptor negative breast cancers.

10072439|Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia.

15464268|Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.

11121425|A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice.

2671991|Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein.

10373328|Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.

15735036|Functional expression and mutations of c-Met and its therapeutic inhibition with SU11274 and small interfering RNA in non-small cell lung cancer.

14598228|Mutation analysis of the leucine-rich, glioma inactivated 1 gene (LGI1) in Japanese febrile seizure patients.

15163466|Paraoxonase 1 and platelet-activating factor acetylhydrolase activities in patients with low hdl-cholesterol levels with or without primary hypertriglyceridemia.

9285728|Possible mechanism for the generation of the HIV-1-resistant form of the CCR5 delta32 mutant chemokine receptor.

11063747|Hormone status selects for spontaneous somatic androgen receptor variants that demonstrate specific ligand and cofactor dependent activities in autochthonous prostate cancer.

2217170|Worldwide differences in the incidence of type I diabetes are associated with amino acid variation at position 57 of the HLA-DQ beta chain.

2824810|Moloney murine leukemia virus-induced myeloid tumors in adult BALB/c mice: requirement of c-myb activation but lack of v-abl involvement.

10644162|Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis.

15045574|Renin-angiotensin system polymorphisms in Taiwanese primary vesicoureteral reflux.

12112734|The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.

12172916|Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy.

11906189|Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.

2548143|N-myc activation by proviral insertion in MCF 247-induced murine T-cell lymphomas.

16124668|Preprohypocretin polymorphisms in Parkinson disease patients reporting "sleep attacks".

11489827|Fluorescence in situ hybridization evaluation of c-erbB-2 gene amplification and chromosomal anomalies in bladder cancer.

12443727|Adjuvant effect of a Flt3 ligand (FL) gene-transduced xenogeneic cell line in a murine colon cancer model.

8954053|Role of the beta 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair.

11216673|Radiation-induced cell cycle delays and p53 status of early passage melanoma cell lines.

11818392|Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

3238590|[Interrelations of genetic markers (HLA antigens and haptoglobin variants) and the course of fibrous-cavernous pulmonary tuberculosis]

12892621|[Differences in clinical presentation between subjects with a phenotype of familial hypercholesterolemia determined by defects in the LDL-receptor and defects in Apo B-100]

9012641|Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene.

12200684|Prognostic significance of FLT3 internal tandem repeat in patients with de novo acute myeloid leukemia treated with reinforced courses of chemotherapy.

15464434|Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.

12019011|Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion.

12714585|Evidence that phosphatidylinositol 3-kinase- and mitogen-activated protein kinase kinase-4/c-Jun NH2-terminal kinase-dependent Pathways cooperate to maintain lung cancer cell survival.

12591842|Prospective evaluation of the effect of an angiotensin I converting enzyme gene polymorphism on the long term risk of major adverse cardiac events after percutaneous coronary intervention.

2365358|Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.

12950498|Retinoblastoma gene expression in human non-melanoma skin cancer.

10762289|Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature.

2912886|Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum.

11246894|Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects.

16272804|Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14.

10644358|Expanded host cell tropism and cytopathic properties of feline immunodeficiency virus strain PPR subsequent to passage through interleukin-2-independent T cells.

15258799|Comment on "The codon 129 polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects"--by Del Bo et al. in J Neurol (2003) 250:688-692.

15677557|Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients.

7845034|Clinical and prognostic significance of chromosomal abnormalities in childhood acute myeloid leukemia de novo.

10799615|Major histocompatibility complex class I gene controls the generation of gamma interferon-producing CD4(+) and CD8(+) T cells important for recovery from friend retrovirus-induced leukemia.

2548333|Structural and functional characterization of mutants of the bovine leukemia virus transactivator protein p34.

10343533|Association of oestrogen receptor gene polymorphisms with age at onset of rheumatoid arthritis.

10408533|A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

9190999|Presence of human papillomavirus in esophageal squamous cell carcinomas of Hong Kong Chinese and its relationship with p53 gene mutation.

9042922|Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

15911088|Transcriptional control of fetal liver hematopoiesis: dominant negative effect of the overexpression of the LIM domain mutants of LMO2.

1951858|Prevalence of the dihydrofolate reductase Asn-108 mutation as the basis for pyrimethamine-resistant falciparum malaria in the Brazilian Amazon.

11841450|Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

15015780|MIP-1alpha antagonizes the effect of a GM-CSF-enhanced subcutaneous vaccine in a mouse glioma model.

12927792|Protein PknE, a novel transmembrane eukaryotic-like serine/threonine kinase from Mycobacterium tuberculosis.

10820167|Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.

11058114|Functional consequences of Rett syndrome mutations on human MeCP2.

15735405|Loss of insulin receptor substrate-1 signaling induces the cardiovascular and proteo(fibrino)lytic system derangements typical of insulin resistance.

15911107|Absence of epidermal growth factor receptor exon 18-21 mutation in hepatocellular carcinoma.

11482925|Molecular analysis of connexin 40 in the familial form of atrial fibrillation.

15045942|[Analysis of microsatellite instability and p53 LOH in advanced colorectal cancers--first report of the No. 3 protocol]

9491914|Nonsynonymous mutations within the human immunodeficiency virus type 1 p17 gene are clustered to sequences binding to the host human leukocyte antigen class I molecules.

12373142|Testing for KIT (CD117) in gastrointestinal stromal tumors: another HercepTest?

15188000|Evidence for colorectal cancer cell specificity of aspirin effects on NF kappa B signalling and apoptosis.

1976101|Identification of susceptibility loci for type 1 (insulin-dependent) diabetes by trans-racial gene mapping.

1976118|c-erbB-2 and c-erbA-1 (ear-1) gene amplification and c-erbB-2 protein expression in Japanese breast cancers: their relationship to the histology and other disease parameters.

10945493|Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts.

6377512|HLA antigens and malaria at San Lazaro Hospital Manila, Philippines.

7933144|Insertion of N-linked glycosylation sites in the variable regions of the human immunodeficiency virus type 1 surface glycoprotein through AAT triplet reiteration.

12107246|Blood pressure in patients with primary aldosteronism is influenced by bradykinin B(2) receptor and alpha-adducin gene polymorphisms.

8417793|Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily.

15221794|The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.

12644018|The role of mitochondrial-mediated apoptosis in a myelodysplastic syndrome secondary to congenital deletion of the short arm of chromosome 4.

10792719|Membrane-to-cytosol redistribution of ECF sigma factor AlgU and conversion to mucoidy in Pseudomonas aeruginosa isolates from cystic fibrosis patients.

8806518|Amino acid substitutions in the CA protein of Moloney murine leukemia virus that block early events in infection.

8741575|Allelotype analysis in mouse hepatocellular carcinomas; frequent homozygous deletion of mouse homolog of p16/CDKN2 gene on chromosome 4 in culture.

15617741|Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency.

7669738|Loss of heterozygosity from the short arm of chromosome 8 is an early event in breast cancers.

8806575|Interaction between the cytoplasmic domains of HIV-1 Vpu and CD4: role of Vpu residues involved in CD4 interaction and in vitro CD4 degradation.

11116113|alpha-adducin and angiotensin I-converting enzyme polymorphisms in essential hypertension.

16237217|A novel multiplexing, polymerase chain reaction-based assay for the analysis of chromosome 18q status in colorectal cancer.

6766467|Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations.

9692017|Genetics of idiopathic male infertility: Y chromosomal azoospermia factors (AZFa, AZFb, AZFc).

12137596|[Relationship between calpain-10 gene polymorphism, hypertension and plasma glucose]

8623758|Detection of the bcl-1 rearrangement at the major translocation cluster in frozen and paraffin-embedded tissues of mantle cell lymphomas by polymerase chain reaction.

15063132|Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations in a hereditary nonpolyposis colorectal cancer family.

2548858|DNA topoisomerase II activity in nonreplicating, transcriptionally inactive, chicken late spermatids.

12438432|Deciphering the genesis and fate of amyloid beta-protein yields novel therapies for Alzheimer disease.

2997715|A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

12468541|Revisiting monomeric HIV-1 protease. Characterization and redesign for improved properties.

9331072|PTEN gene mutations are seen in high-grade but not in low-grade gliomas.

1703212|Glycosylation governs the binding of antipeptide antibodies to regions of hypervariable amino acid sequence within recombinant gp120 of human immunodeficiency virus type 1.

9067542|Two promoters in expression of estrogen receptor messenger RNA in human breast cancer.

15735891|Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population.

10097422|Effect of dietary fish supplementation on lipoprotein levels in patients with hyperlipoproteinemia.

10097431|Apolipoprotein E genotypes and metabolic risk factors for coronary heart disease in middle-aged women.

12461329|The ARF-p16 gene locus in carcinogenesis and therapy of head and neck squamous cell carcinoma.

9213183|Elevated serum lipoprotein (a) levels associated with ulcerative colitis in a young Japanese patient.

11359464|The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome.

1615432|Inositol deficiency increases the susceptibility to neural tube defects of genetically predisposed (curly tail) mouse embryos in vitro.

7815543|HPRS-103 (exogenous avian leukosis virus, subgroup J) has an env gene related to those of endogenous elements EAV-0 and E51 and an E element found previously only in sarcoma viruses.

12975284|Biochemical diagnosis of Alzheimer disease by measuring the cerebrospinal fluid ratio of phosphorylated tau protein to beta-amyloid peptide42.

9915970|Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.

9915973|A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.

12438598|Similar regulation of cell surface human T-cell leukemia virus type 1 (HTLV-1) surface binding proteins in cells highly and poorly transduced by HTLV-1-pseudotyped virions.

10732869|Heterogeneity of keratin intermediate filaments expression in human glioma cell lines.

1409710|von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.

10669178|Genotype distribution of the 46C/T polymorphism of coagulation factor XII in the Japanese population: absence of its association with ischemic cerebrovascular disease.

9368505|Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.

3492137|Leu 7+, Leu 11a- acute T-lymphoblastic leukemia having low K cell activity and no NK cell activity.

12438610|Mamu-A*01 allele-mediated attenuation of disease progression in simian-human immunodeficiency virus infection.

10544087|Fatal immunopathogenesis by SIV/HIV-1 (SHIV) containing a variant form of the HIV-1SF33 env gene in juvenile and newborn rhesus macaques.

9639385|Preferential allelic expression can lead to reduced expression of BRCA1 in sporadic breast cancers.

12644496|The src homology 3-like domain of the diphtheria toxin repressor (DtxR) modulates repressor activation through interaction with the ancillary metal ion-binding site.

115079|Analbuminemia (a quantitative albumin variant).

10486321|A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

10486326|Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.

2541898|Growth rate dependence of differential incorporation of a guanosine triphosphate photoaffinity probe into the alpha subunit of a guanine nucleotide binding protein, Gs, from metastatic variants of B16 melanoma cells.

14501770|Androgen receptors in prostate cancer.

12915243|Behavioural and anatomical effects of systemically administered leukemia inhibitory factor in the SOD1(G93A G1H) mouse model of familial amyotrophic lateral sclerosis.

7845865|Allelic loss of the retinoblastoma gene in primary human prostatic adenocarcinomas.

2147230|Lipoprotein (a) and coronary heart disease in patients with familial hypercholesterolemia.

8979136|Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.

1527846|A novel Ets-related transcription factor, Elf-1, binds to human immunodeficiency virus type 2 regulatory elements that are required for inducible trans activation in T cells.

12190880|Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

12857562|Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.

11058865|Enhancement of metastatic properties of pancreatic cancer cells by MUC1 gene encoding an anti-adhesion molecule.

6252993|Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.

10361244|HLA class II homozygosity confers susceptibility to common variable immunodeficiency (CVID).

2900512|Differential expression of intermediate filaments and fibronectin in human neuroblastoma cells.

11058898|Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

1703563|Mutations within the RNase H domain of human immunodeficiency virus type 1 reverse transcriptase abolish virus infectivity.

14501802|Polymorphism in protease and reverse transcriptase and phenotypic drug resistance of HIV-1 recombinant CRF02_AG isolates from patients with no prior use of antiretroviral drugs in Abidjan, Côte d'Ivoire.

16024613|Epidermal growth factor-induced signaling in breast cancer cells results in selective target gene activation by orphan nuclear receptor estrogen-related receptor alpha.

12850309|Cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms in Japanese patients with psoriasis vulgaris.

15941945|Catechol-O-methyl-transferase functional polymorphism and nicotine dependence: an evaluation of nonreplicated results.

15941958|5,10-Methylenetetrahydrofolate reductase polymorphisms and the risk of pancreatic cancer.

11896485|Developmental changes in adipose and muscle lipoprotein lipase activity in the atherosclerosis-prone JCR:LA-corpulent rat.

14531940|Increase in drug-induced seizure susceptibility of transgenic mice overexpressing GABA transporter-1.

15848161|The N137 and P140 amino acids in the p51 and the P95 amino acid in the p66 subunit of human immunodeficiency virus type 1 (HIV-1) reverse transcriptase are instrumental to maintain catalytic activity and to design new classes of anti-HIV-1 drugs.

11440372|Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians.

15871018|Mutations of the HFE gene among Turkish hereditary hemochromatosis patients.

12887721|Long-term effect of low-density lipoprotein apheresis in patients with homozygous familial hypercholesterolemia.

9639523|Interleukin-6-induced inhibition of multiple myeloma cell apoptosis: support for the hypothesis that protection is mediated via inhibition of the JNK/SAPK pathway.

15996221|Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

15334374|Lack of relationship between beta3-adrenergic receptor gene polymorphism and gestational diabetes mellitus in a Taiwanese population.

2448221|Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia.

14586256|Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.

10456447|Helicobacter pylori infection and the risk of myocardial infarction: role of fibrinogen and its genetic control.

10037693|beta3-adrenoceptor control the cystic fibrosis transmembrane conductance regulator through a cAMP/protein kinase A-independent pathway.

11440415|The genetics of osteoporosis: vitamin D receptor gene polymorphisms and circulating osteocalcin in healthy Irish adults.

15665306|A genome-wide view of the in vitro response to l-asparaginase in acute lymphoblastic leukemia.

12880578|Search for linkage between hand osteoarthritis and 11q 12-13 chromosomal segment.

2295467|Portacaval shunt in three children with alpha-1-antitrypsin deficiency and cirrhosis: 9 to 12 1/3 years later.

9000575|Androgen receptor gene amplification: a possible molecular mechanism for androgen deprivation therapy failure in prostate cancer.

8884267|Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.

12792735|Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.

15871131|Low accumulation of L90M in protease from subtype F HIV-1 with resistance to protease inhibitors is caused by the L89M polymorphism.

12408868|The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells.

9787694|The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.

15841096|An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray.

15304337|Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis.

1575022|Colchicine myopathy in a case of familial Mediterranean fever: immunohistochemical and ultrastructural study of accumulated tubulin-immunoreactive material.

2110130|Frequent glycine-to-aspartic acid mutations at codon 12 of c-Ki-ras gene in human pancreatic cancer in Japanese.

11896614|p16INK4a loss and sensitivity in KSHV associated primary effusion lymphoma.

10097942|C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes.

10037783|Telomere length dynamics and chromosomal instability in cells derived from telomerase null mice.

10815129|Role of the low-density lipoprotein receptor-related protein in beta-amyloid metabolism and Alzheimer disease.

15121480|Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified.

10815136|No association between a presenilin 1 polymorphism and Alzheimer disease.

11021747|Concurrent disruption of p16INK4a and the ARF-p53 pathway predicts poor prognosis in aggressive non-Hodgkin's lymphoma.

12556914|Mutational analysis of the nicotinic acetylcholine receptor alpha 4 subunit gene in attention deficit/hyperactivity disorder: evidence for association of an intronic polymorphism with attention problems.

10815160|Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.

1457125|Molecular genetics of leukemia inhibitory factor (LIF) and its receptor.

1520870|Use of alpha interferon for the treatment of relapse of chronic myelogenous leukemia in chronic phase after allogeneic bone marrow transplantation.

9308773|Prevalence of factor V Leiden in accelerated forms of coronary artery disease.

16119992|An indolent case of T-prolymphocytic leukemia with t(3;22)(q21;q11.2) and elevated serum beta2-microglobulin.

1881920|Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

15841171|MEF2A sequence variants and coronary artery disease: a change of heart?

8347689|Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.

12857890|Human immunodeficiency virus (HIV) type 1 transframe protein can restore activity to a dimerization-deficient HIV protease variant.

15753383|Androgens up-regulate the insulin-like growth factor-I receptor in prostate cancer cells.

10456659|Transforming growth factor-beta and multidrug resistance in chronic lymphocytic leukemia.

7502080|Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice.

10426588|Infrequent detectable somatic mutations of the RET and glial cell line-derived neurotrophic factor (GDNF) genes in human pituitary adenomas.

7532199|Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

12880776|Targeted introduction of a diphtheria toxin resistant mutation into the chromosomal EF-2 locus of Pichia pastoris and expression of immunotoxin in the EF-2 mutants.

4177057|Immunoglobulin production in bronchial mucosa and bronchial lymph nodes, particularly in cystic fibrosis of the pancreas.

8282798|Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

4606609|Hemoglobin Constant Spring, and unusual alpha-chain variant involved in the etiology of hemoglobin H disease.

2596526|Esterase D assay in Brazilian retinoblastoma families.

10903124|OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

7599633|Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

12097483|Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

8523464|Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.

12401821|Specific p53 immunostaining patterns are associated with smoking habits in patients with oral squamous cell carcinomas.

6189682|Chromatin structure and expression of amylase genes in rat pituitary tumor cells.

12030011|[Functional significance of MeCP2 mutations in patients with Rett syndrome]

8648668|Inhibition of human and simian immunodeficiency virus protease function by targeting Vpx-protease-mutant fusion protein into viral particles.

10699891|p53 mutation pattern in hepatocellular carcinoma in workers exposed to vinyl chloride.

10456788|Sequence analysis of the polymerase domain of HIV-1 reverse transcriptase in naive and zidovudine-treated individuals reveals a higher polymorphism in alpha-helices as compared with beta-strands.

10090910|Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

8282827|Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.

7833147|P53 mutation in a series of epithelial ovarian cancers from the U.K., and its prognostic significance.

15996600|The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm.

8523579|Single amino acid substitution in constant region 1 or 4 of gp120 causes the phenotype of a human immunodeficiency virus type 1 variant with mutations in hypervariable regions 1 and 2 to revert.

9815653|Immunoglobulins D and M multiple myeloma variants are heavily mutated.

6335362|[HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency]

8340674|C1-inhibitor and its genetic alterations in hereditary angioneurotic edema.

6335371|Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).

15088153|Association analysis of the functional monoamine oxidase A gene promotor polymorphism in migraine.

1846121|Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension.

9569035|Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

15635661|Site-specific cytosine methylation in S-COMT promoter in 31 brain regions with implications for studies involving schizophrenia.

15452722|Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.

6034522|Genetics of the Dombrock blood group system.

11164181|V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression.

10903326|Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice.

11289341|Protein-Z and thrombosis.

11678027|[Prediction of insulin-dependent diabetes mellitus in children of first-degree relatives of diabetic patients]

10780666|Mutations of the p53 gene in nasal NK/T-cell lymphoma.

7951239|No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

7951241|Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2).

11440996|Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

11924719|Kynureninase is a novel candidate gene for hypertension in spontaneously hypertensive rats.

8104906|Lack of allelic deletion and point mutation as mechanisms of p53 activation in human malignant melanoma.

15517824|Balanced de novo translocation t(6;7)(p25;q31) and cleft palate as an isolated finding.

7958503|ApoA-IV polymorphism associated with myocardial infarction in obese NIDDM patients. The San Luis Valley Diabetes Study.

12699450|Growth hormone treatment improves body composition in adults with Prader-Willi syndrome.

11583052|Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

3098328|Immunoglobulin and T cell receptor gene rearrangements in human lymphoma and leukemia.

86758|Neutrophil cytochrome b in chronic granulomatous disease.

1362523|Genetic analysis of the linkage between chromosome 11q and atopy.

8182080|Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

12632084|Increased invasion and matrix metalloproteinase-2 expression by Snail-induced mesenchymal transition in squamous cell carcinomas.

15818752|c-src activating mutation analysis in Chinese patients with colorectal cancer.

12787391|Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.

11134236|Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

2719687|A promising genomic transfectant into Xeroderma pigmentosum group A with highly amplified mouse DNA and intermediate UV resistance turns revertant.

12097805|Significance of serotonin transporter gene 5-HTTLPR and variable number of tandem repeat polymorphism in attention deficit hyperactivity disorder.

2860482|Predicting insulin dependent diabetes mellitus.

12037699|An association of BMI with A (-6) G, M235T and T174M polymorphisms in angiotensinogen gene in essential hypertension.

6842252|HLA antigens and myasthenia gravis in north India.

15818823|Gene symbol: SLC3A1. Disease: cystinuria.

15382050|-93G-->A polymorphism of hMLH1 and risk of primary lung cancer.

15818842|Gene symbol: SLC3A1. Disease: cystinuria.

12662275|DNA microsatellite and linkage analysis supports the inclusion of LOCR in the Rh blood group system.

15382084|CHEK2:1100delC and female breast cancer in the United States.

10687099|[Polymorphism of exon 4 in the CANP-3 gene in patients with primary myopathies]

9775112|[Homocysteine, 5,10-methylenetetrahydrofolate reductase and deep venous thrombosis. Survey of 120 patients in internal medicine]

8736903|Inhibition of HIV-1 replication by uridine-3'-spiroxirane, a new type of reverse transcriptase inhibitor.

15081242|Chromosome 7q21-22 and multiple sclerosis.

15116126|Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia.

11678332|The role of P-glycoprotein (MDR1) polymorphisms and mutations in colorectal cancer.

11016459|Gene encoding the catalytic subunit p110beta of human phosphatidylinositol 3-kinase: cloning, genomic structure, and screening for variants in patients with type 2 diabetes.

10085408|Proliferative fraction, bcl-1 gene translocation, and p53 mutation status as markers in mantle cell lymphoma.

12000493|Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children.

9261348|Nucleotide substitutions within U5 are critical for efficient reverse transcription of human immunodeficiency virus type 1 with a primer binding site complementary to tRNA(His).

9326333|Recessive inheritance of obesity in familial non-insulin-dependent diabetes mellitus, and lack of linkage to nine candidate genes.

10988009|Genetics of inflammation and risk of coronary artery disease: the central role of interleukin-6.

12544470|Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.

15264286|A novel MSX1 mutation in hypodontia.

8270130|Insulin autoantibodies and high titre islet cell antibodies are preferentially associated with the HLA DQA1*0301-DQB1*0302 haplotype at clinical type 1 (insulin-dependent) diabetes mellitus before age 10 years, but not at onset between age 10 and 40 years. The Belgian Diabetes Registry.

8270132|An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.

16137574|Imbalanced excitatory to inhibitory synaptic input precedes motor neuron degeneration in an animal model of amyotrophic lateral sclerosis.

3457264|Hematologic remission and cytogenetic improvement induced by recombinant human interferon alpha A in chronic myelogenous leukemia.

7981702|Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.

9261415|Interferon-independent and -induced regulation of Epstein-Barr virus EBNA-1 gene transcription in Burkitt lymphoma.

2496144|A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi.

1427872|Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

8240108|Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

12609502|Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice.

8094595|A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.

2830625|An Epstein-Barr virus immediate-early gene product trans-activates gene expression from the human immunodeficiency virus long terminal repeat.

11979399|Polymorphisms in exon 3 of the proopiomelanocortin gene in relation to serum leptin, salivary cortisol, and obesity in Swedish men.

10903849|A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11.

12699883|Analysis of CDKN1A polymorphisms: markers of cancer susceptibility?

8849112|[11-beta-hydroxylase deficiency and glucocorticoid-sensitive hyperaldosteronism]

8696350|Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

1846721|Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization.

15234338|Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.

6819759|Multiple sclerosis--relation between HLA haplotype A25, B18 and disease progression.

11796516|Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity.

15329413|EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib.

15081566|Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at high risk for coronary heart disease.

15748238|Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case.

15748264|A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza.

1728861|Use of the polymerase chain reaction mismatch technique to identify the HLA-DQw8 allele in patients with insulin-dependent diabetes mellitus.

10208453|Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parental alleles at DAT1, DBH and DRD5 to affected children.

2712862|Apolipoprotein E polymorphism and lipoproteins in insulin-treated diabetes mellitus.

7314067|Strong association of idiopathic membranous nephropathy (IMN) with HLA-DR 3 and MT-2 without involvement of HLA-B 18 and no association to BfF1.

10208490|Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men.

12757707|Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

10444340|Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

11796601|Improved immunogenicity and efficacy of the recombinant 19-kilodalton merozoite surface protein 1 by the addition of oligodeoxynucleotide and aluminum hydroxide gel in a murine malaria vaccine model.

9326630|Cleft palate in mice with a targeted mutation in the gamma-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67.

7833920|Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.

9326650|Phenotypic knockout of HIV type 1 chemokine coreceptor CCR-5 by intrakines as potential therapeutic approach for HIV-1 infection.

8240372|Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

2105266|Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.

15924063|[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]

3487654|Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.

3457571|Frequencies of glyoxalase I phenotypes as biological markers in chronic alcoholism.

2047579|Antitrypsin phenotypes in occupational organic diisocyanate asthma.

11884567|Patterns of gene expression and a transactivation function exhibited by the vGCR (ORF74) chemokine receptor protein of Kaposi's sarcoma-associated herpesvirus.

12514700|Elevated beta-secretase expression and enzymatic activity detected in sporadic Alzheimer disease.

14699423|Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene as a positional candidate for attention-deficit/hyperactivity disorder in the 16p13 region.

14699424|No association with the neuregulin 1 haplotype to Japanese schizophrenia.

6089551|Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.

12173035|Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia.

14699485|The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC.

9562633|Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

11678850|A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.

15924147|Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.

10951140|The A5.1 allele of the major histocompatibility complex class I chain-related gene A is associated with psoriasis vulgaris in Chinese.

11854544|Targeting protein kinase C: new therapeutic opportunities against high-grade malignant gliomas?

12386101|Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

8812118|Mutation of the Emx-1 homeobox gene disrupts the corpus callosum.

7858267|New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

10893485|Novel polymorphisms of the human cholecystokinin A receptor gene: an association analysis with schizophrenia.

8453594|Double t(1;7)(p36;p11) in a megakaryocytic crisis of chronic myelogenous leukemia with variant t(5;9;22).

464416|["Free" 9p trisomy in a male child with severe mental retardation (author's transl)]

12609970|Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia.

16313761|[Detection and evaluation of the mutations of embB gene in ethambutol-susceptible and resistant Mycobacterium tuberculosis isolates from China.]

3038959|Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.

15924232|Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

12727931|Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

14699618|Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.

1086622|Clinical, epidemiologic, and pulmonary function studies in alpha,-antitrypsin-deficient subjects of Pi Z type.

9650634|The D2 dopamine receptor gene: a review of association studies in alcoholism and phenotypes.

8453669|A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

15359910|[Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation]

9326952|Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

8907321|A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

12208141|Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.

11523757|The S549R (T-->G) cystic fibrosis gene mutation.

9499114|Genetic mapping of the cloned subgroup A avian sarcoma and leukosis virus receptor gene to the TVA locus.

2311344|Histocompatibility antigens (A, B, C, and DR) in Arabs with rheumatoid arthritis.

12444096|Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.

14514376|[Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]

9863707|Plasminogen activator inhibitor-1 4G/5G-polymorphism and factor V Q506 mutation are not associated with myocardial infarction in young men.

8247961|Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases.

9108071|Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.

9108089|Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

8210651|Clonal analysis of n-ras gene activation in acute myeloid leukemia.

8483882|H-ras-1 point mutations in soft tissue sarcomas.

15623598|Matrix metalloproteinase/tissue inhibitors of matrix metalloproteinase phenotype identifies poor prognosis colorectal cancers.

12750939|Lack of association of tumor necrosis factor alpha gene polymorphism in patients with rheumatoid arthritis in central Taiwan.

2040693|Rearrangements of the tal-1 locus as clonal markers for T cell acute lymphoblastic leukemia.

9715786|Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans.

9502772|Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.

9256125|Evaluation of tyrosinase mRNA as a tumor marker in the blood of melanoma patients.

3781667|Adsorption of lipoprotein containing apolipoprotein-B through plasma separation for treatment of familial hypercholesterolemia.

10981553|Beta2-adrenergic receptor polymorphisms at codon 16, cardiovascular phenotypes and essential hypertension in whites and African Americans.

15259035|Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil.

15076154|Lack of association of human G-protein beta 3 subunit variant with hypertension in Japanese workers.

14720258|Asthma is associated with single-nucleotide polymorphisms in ADAM33.

15623630|Association of epigenetic inactivation of RASSF1A with poor outcome in human neuroblastoma.

7888678|Splenic lymphoma with villous lymphocytes involves B cells with extensively mutated Ig heavy chain variable region genes.

11548073|Significance of genetic polymorphisms in glutathione S-transferase multigene family and lung cancer risk.

7881408|Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

10627809|Cytosolic phospholipase A2 gene in schizophrenia.

7587888|[Correlation studies on the alterations of multiple tumor suppressor genes in human esophageal cancer and in human and monkey esophageal epithelial cells treated with N-methyl-N-benzyl nitrosamine]

8478007|Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.

8478012|Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism.

1503270|Canine plasma alkaline phosphatase polymorphism and its relationship with the canine Tr blood group system.

10803511|Identification of three subgroups of B cell chronic lymphocytic leukemia based upon mutations of BCL-6 and IgV genes.

11997030|Most immunoglobulin heavy chain switch mu rearrangements in B-cell chronic lymphocytic leukemia are internal deletions.

3480966|[Acute myeloid leukemia (FAB classification, M2) with translocation t(7;11) (p15;p15)]

2318855|In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.

12592353|C-Kit point mutations in core binding factor leukemias: correlation with white blood cell count and the white blood cell index.

15194219|Anoxia/reoxygenation down-regulates the expression of E-cadherin in human colon cancer cell lines.

14514610|Missense mutation of Pro387Leu in protein tyrosine phosphatase-1B (PTP-1B) is not associated with type 2 diabetes in a Chinese Han population.

12893251|Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA.

9675154|Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

14574883|[Function of MMP-7 in colorectal cancer]

489013|Terminal 7p deletion and 1;7 translocation associated with craniosynostosis.

12833159|Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

15771907|A clonal reciprocal t(2;7)(p13;p13) in plantar fibromatosis.

8170180|Aggressive medulloblastoma with high-level N-myc amplification.

12569666|[C677T genetic polymorphism of methylenetetrahydrofolate reductase in premature coronary heart disease]

1982450|Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis.

9108434|Both paroxysmal nocturnal hemoglobinuria (PNH) type II cells and PNH type III cells can arise from different point mutations involving the same codon of the PIG-A gene.

6265907|Mutations in the gene coding for Escherichia coli DNA topoisomerase I affect transcription and transposition.

9733038|Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

9921912|Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.

15377357|CARD15/NOD2 single nucleotide polymorphisms do not confer susceptibility to type I psoriasis.

11819156|Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency.

12893432|The p53 codon 72 polymorphism in Thai nasopharyngeal carcinoma.

15618021|Ciglitazone induces early cellular proliferation and NF-kappaB transcriptional activity in colon cancer cells through p65 phosphorylation.

8960833|UKPDS 19: heterogeneity in NIDDM: separate contributions of IRS-1 and beta 3-adrenergic-receptor mutations to insulin resistance and obesity respectively with no evidence for glycogen synthase gene mutations. UK Prospective Diabetes Study.

6383926|Correlation of islet cell antibodies and HLA-DR phenotypes with diabetes mellitus in adults.

12386824|Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

15252214|No association between tumour necrosis factor receptor type 2 gene polymorphism and rheumatoid arthritis severity: a comparison of the extremes of phenotypes.

8471125|Schizophrenia: normal sequence in the dopamine D2 receptor region that couples to G-proteins. DNA polymorphisms in D2.

11997341|Transcriptional regulation of the stem cell leukemia gene (SCL)--comparative analysis of five vertebrate SCL loci.

15949016|Lack of association of SPINK5 polymorphisms with nonsyndromic atopic dermatitis in the population of Northern Germany.

2737929|HLA class III haplotypes in multicase rheumatoid arthritis families.

14687087|Sequencing, tissue distribution and physical mapping of the porcine homologue of cardiomyopathy associated 3 (CMYA3).

9101301|Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.

10587341|Dilated and failing cardiomyopathy in bradykinin B(2) receptor knockout mice.

10587361|Targeted disruption of the plasmodium berghei CTRP gene reveals its essential role in malaria infection of the vector mosquito.

15347338|Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.

14569116|Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.

16007608|Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

3209396|Alpha-thalassemia screening reveals quadruple zeta-globin genes in a Laotian family.

15370207|Molecular-cytogenetic characterization of non-Hodgkin's lymphoma with double and cryptic translocations of the immunoglobulin heavy chain gene.

9615268|HLA antigens and pANCA define ulcerative colitis as a genetically heterogeneous disorder.

1952585|Localization of a gene for Waardenburg syndrome type I.

1628890|Influence of H-2 genes on growth of Mycobacterium tuberculosis in the lungs of chronically infected mice.

11967321|Strength of envelope protein interaction modulates cytopathicity of measles virus.

11937265|Overexpression of novel short isoforms of Helios in a patient with T-cell acute lymphoblastic leukemia.

8411067|Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

9733227|Association between angiotensin I-converting enzyme genotypes, extracranial artery stenosis, and stroke.

9101469|p16 overexpression: a potential early indicator of transformation in ovarian carcinoma.

11879560|BRCA1 and BRCA2 mutations in a population-based study of male breast cancer.

9439684|Somatic hypermutations in the VH segment of immunoglobulin genes of CD5-positive diffuse large B-cell lymphomas.

10499629|Gains of 1q21-q22 and 13q12-q14 are potential indicators for resistance to cisplatin-based chemotherapy in ovarian cancer patients.

7733919|Association of neurotrophin-3 gene variant with severe forms of schizophrenia.

11606363|The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: revising the mutator hypothesis.

3292507|Cytochrome b-245 and its involvement in the molecular pathology of chronic granulomatous disease.

11423499|Autoantibodies to a 38-kDa glycosylated islet cell membrane-associated antigen in (pre)type 1 diabetes: association with IA-2 and islet cell autoantibodies.

11842265|Expression of doppel in the CNS of mice does not modulate transmissible spongiform encephalopathy disease.

3989306|Immunization of monkeys with a 140 kilodalton merozoite surface protein of Plasmodium knowlesi malaria: appearance of alternate forms of this protein.

15824066|Novel simian immunodeficiency virus CTL epitopes restricted by MHC class I molecule Mamu-B*01 are highly conserved for long term in DNA/MVA-vaccinated, SHIV-challenged rhesus macaques.

9168970|Genetic and physical delineation of the region of the mouse deafness mutation shaker-2.

14602909|Identification of a new RNA.RNA interaction site for human telomerase RNA (hTR): structural implications for hTR accumulation and a dyskeratosis congenita point mutation.

11754414|Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

6807773|5q--chromosome in a case of acute non-lymphocytic leukemia (ANLL): the marker of a polyphasic disease?

9344665|Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.

8860096|Glycogen synthase polymorphism, insulin resistance and hypertension.

12073007|Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

8772238|On the role of platelet Fc gamma RIIa phenotype in heparin-induced thrombocytopenia.

12198201|A KQ121 variant in the PC-1 gene and diabetic nephropathy: discrepant results between North and South Europe.

15942083|P53 germline mutations and therapy-related myelodysplastic syndrome.

11578811|E-cadherin expression is commonly downregulated by CpG island hypermethylation in esophageal carcinoma cells.

15611114|CD4 down-regulation by HIV-1 and simian immunodeficiency virus (SIV) Nef proteins involves both internalization and intracellular retention mechanisms.

15824177|Genetic variants in the vitamin D receptor gene and prostate cancer risk.

15824188|TP53 mutation spectrum in lung cancer is not different in women and men.

9314633|Associations of GAD65- and IA-2- autoantibodies with genetic risk markers in new-onset IDDM patients and their siblings. The Belgian Diabetes Registry.

10916185|Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma.

7515114|p53 in prostate cancer: frequent expressed transition mutations.

11960348|ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia.

12509908|[Identification of new mutant sites and 894C deletion variant genotyping of HIV-1 coreceptor CCR5 in indigenous Chinese populations]

12509922|[Relation of pentanucleotide repeat polymorphism of apolipoprotein (a) gene to plasma lipoprotein (a) level among Chinese patients with myocardial infarction and cerebral infarction]

14988268|An obesity-related locus in chromosome region 12q23-24.

14988276|Association of the VEGF gene with proliferative diabetic retinopathy but not proteinuria in diabetes.

10858457|The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

12620651|Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients.

11518736|Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

12198366|Investigation of quantitative trait loci in the CCKAR gene with susceptibility to alcoholism.

9462749|SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

16060904|Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

8265770|Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.

15824269|Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

15317615|Methylenetetrahydrofolate reductase gene polymorphism is not related to diabetic nephropathy in Japanese Type 2 diabetic patients.

12469141|Loss of heterozygosity on chromosome 16p and 18q in anaplastic thyroid carcinoma.

15736425|Thymidylate synthase gene promoter polymorphisms are associated with TSmRNA expressions but not with microsatellite instability in colorectal cancer.

15736439|Effect of estrogen, tamoxifen and epidermal growth factor on the transcriptional regulation of vascular endothelial growth factor in breast cancer cells.

11930331|Protective effect of interleukin-4 -589T polymorphism on human immunodeficiency virus type 1 disease progression: relationship with virus load.

1280265|Comparison of Moloney murine leukemia virus mutation rate with the fidelity of its reverse transcriptase in vitro.

12013027|Brain neuropeptide Y (NPY) in stress and alcohol dependence.

9068139|Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.

9763681|Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

11571779|KUB3 amplification and overexpression in human gliomas.

10409675|Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting.

14745251|[Cationic trypsinogen gene mutation in patients with chronic idiopathic pancreatitis]

12138246|Interaction of fibronectin with human colon adenocarcinoma cells: effect on the in vivo tumorigenic capacity.

10462629|Culture-independent prediction of isoniazid resistance in Mycobacterium tuberculosis by katG gene analysis directly from sputum samples.

10527682|The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

15671554|Prognostic significance of Jab1 expression in laryngeal squamous cell carcinomas.

2725293|Reduction in plasma low-density lipoprotein cholesterol and urinary mevalonic acid by lovastatin in patients with heterozygous familial hypercholesterolemia.

1581211|Diagnostic and clinical importance of interleukin-2 receptor alpha chain expression on non-T-cell acute leukaemia cells.

8478985|Basic fibroblast growth factor expression is required for clonogenic growth of human glioma cells.

1433226|The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

16143024|Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia.

2396862|Polymorphism of major histocompatibility complex extended haplotypes bearing HLA-DR3 in patients with rheumatoid arthritis with gold induced thrombocytopenia or proteinuria.

15317892|A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

13129658|Schizophrenia is not associated with DRD4 48-base-pair-repeat length or individual alleles: results of a meta-analysis.

11170079|Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

8772620|Prevalence of factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries.

9402862|The association of HLA-DRB genes and the shared epitope with rheumatoid arthritis in Pakistan.

7633409|Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

7633422|A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

1433339|Chemical exposure, ras oncogene activation, and acute myeloid leukemia.

8719753|Analysis of a human brain voltage-gated potassium channel gene, KCNA6 (HBK2), in patients with juvenile myoclonic epilepsy.

12409276|Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

8536888|Common deleted region on the long arm of chromosome 5 in esophageal carcinoma.

14509676|Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

8837714|No association of dopamine D2 receptor molecular variant Cys311 and schizophrenia in Chinese patients.

8837715|Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

3287162|Expression in non-Hodgkin's lymphoma of the bcl-2 protein associated with the t(14;18) chromosomal translocation.

15972673|Simultaneous Th1-type cytokine expression is a signature of peritoneal CD4+ lymphocytes responding to infection with Listeria monocytogenes.

16025286|Rhabdoid meningioma of the tentorium with expression of desmin in a 12-year-old Turner syndrome patient.

9402976|Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

2035981|Lipoprotein transport gene abnormalities underlying coronary heart disease susceptibility.

8800407|Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.

14627686|Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.

14627693|Identification of eight novel NSD1 mutations in Sotos syndrome.

9916847|Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

9399486|IS6110 fingerprinting of drug-resistant Mycobacterium tuberculosis strains isolated in Germany during 1995.

11536076|Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

2725521|Human retinoblastoma gene: long-range mapping and analysis of its deletion in a breast cancer cell line.

8536956|Angiotensin-converting enzyme genotypes in the high- and low-risk area for coronary heart disease in Finland.

9703867|Effect of interleukin-1 alpha and tumour necrosis factor-alpha on cisplatin-induced ERCC-1 mRNA expression in a human ovarian carcinoma cell line.

11170229|Apo B gene haplotype is associated with lipid profile of higher risk for coronary heart disease in Caucasian Brazilian men.

7904314|p53 oncogene mutations in human prostate cancer specimens.

7515656|Testicular germ cell tumors of adults show deletions of chromosomal bands 11p13 and 11p15.5, but no abnormalities within the zinc-finger regions and exons 2 and 6 of the Wilms' tumor 1 gene.

11170285|Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia.

11170287|Translocation breakpoints in FHIT and FRA3B in both homologs of chromosome 3 in an esophageal adenocarcinoma.

14592816|Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

15182195|On the mechanism of a mutated and abnormally functioning gamma-aminobutyric acid (A) receptor linked to epilepsy.

2991592|Correspondence between immunological and functional domains in the transforming protein of Fujinami sarcoma virus.

14592847|Quantitative trait loci analysis for plasma HDL-cholesterol concentrations and atherosclerosis susceptibility between inbred mouse strains C57BL/6J and 129S1/SvImJ.

7086154|Association of the C2-deficiency gene (C2*QO) with the C4A*4, C4B*2 genes.

2424796|Mouse sera contain "natural" antibodies directed exclusively against polymorphic--non-histocompatibility--antigens of the chicken Ea- A blood group system.

14627764|Mutational analysis of the UCP2 core promoter and relationships of variants with obesity.

11596341|[Myoadenylate deaminase deficiency]

11596344|[Complex III (ubiquinone-cytochrome c reductase) deficiency]

15919834|Angiotensin-converting enzyme gene polymorphisms and obesity: an examination of three black populations.

7663784|Alveolar macrophage TNF-alpha release and BAL cell phenotypes in sarcoidosis.

8797045|Recent progress in the molecular genetic aspects of non-insulin-dependent diabetes mellitus.

8712704|Prostate-specific antigen promoter driven gene therapy targeting DNA polymerase-alpha and topoisomerase II alpha in prostate cancer.

8105086|A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.

11059695|Vaccination with B16 melanoma cells expressing a secreted form of interleukin-1beta induces tumor growth inhibition and an enhanced immunity against the wild-type B16 tumor.

15365152|Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

9781061|Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.

11082515|Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2.

11684281|Extramedullary T lymphoid blast crisis representing an additional translocation, t(6;8)(q25;q22) in a patient with Philadelphia-positive chronic myelogenous leukemia after allogeneic bone marrow transplantation.

10821714|Inhibition of clinically relevant mutant variants of HIV-1 by quinazolinone non-nucleoside reverse transcriptase inhibitors.

10881900|Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus.

9420055|Mutations at codon 184 in simian immunodeficiency virus reverse transcriptase confer resistance to the (-) enantiomer of 2',3'-dideoxy-3'-thiacytidine.

15824851|Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

11566346|Localization of the chromosome 22 breakpoints in two cases of acute megakaryoblastic leukemia with t(1;22)(p13;q13).

8830724|Characterization of a complex translocation [t(4;9;22)(p16;q34;q11)] in chronic myelogenous leukemia by fluorescence in situ hybridization technique.

9450180|Werner syndrome: characterization of mutations in the WRN gene in an affected family.

8800641|The human 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene; 3 beta-HSD and CYP17 do not segregate with dominantly inherited hirsutism.

8860838|Modification of tumor suppressor gene expression in non-small cell lung cancer (NSCLC) with a retroviral vector expressing wildtype (normal) p53.

9186669|Somatic mutation and CDR3 length of immunoglobulin lambda variable region genes in the synovium of patients with rheumatoid arthritis.

10332028|N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.

10362142|Expression of cytokeratin 19 mRNA in human lung cancer cell lines.

15182326|CA microsatellite polymorphism of the nuclear factor kappa B1 gene in celiac disease.

9816045|Absence of p53 autoantibodies in sera from glioma patients.

9816065|Loss of heterozygosity at 11q22 correlates with low progesterone receptor content in epithelial ovarian cancer.

1551681|A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis.

15611902|[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome]

9788438|c-erbB3 and c-erbB4 expression is a feature of the endocrine responsive phenotype in clinical breast cancer.

9788444|Reciprocal relationship between the tumor suppressors p53 and BAX in primary colorectal cancers.

8767103|Interferon alpha-2c therapy of patients with chronic myelogenous leukemia: long-term results of a multicenter phase-II study. Austrian Biological Response Modifier (BRM) Study Group.

11985260|[Polymorphism analysis of 825C/T of the G-protein beta 3 subunit in high risk population of hypertension in the northeast China]

12645576|Response to Amar J. Klar: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders.

10098729|Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer.

14680977|Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

7994911|Perforin expression by thyroid-infiltrating T cells in autoimmune thyroid disease.

7751811|A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.

15217350|The 161TT genotype in the exon 6 of the peroxisome-proliferator-activated receptor gamma gene is associated with premature acute myocardial infarction and increased lipid peroxidation in habitual heavy smokers.

1676908|Coamplification of simple repetitive DNA fingerprint fragments and the EGFR gene in human gliomas.

12527685|Deletion polymorphism of the angiotensin I converting enzyme gene is a potent risk factor for coronary artery ectasia.

11323402|Mitotic checkpoint genes hBUB1, hBUB1B, hBUB3 and TTK in human bladder cancer, screening for mutations and loss of heterozygosity.

9186843|Induction of nitric oxide synthase II does not account for excess vascular nitric oxide production in experimental cirrhosis.

2597230|Kinetics of HDL-apo A-I in the WHHL rabbit, an animal model of familial hypercholesterolemia.

11742272|Variant eotaxin: its effects on the asthma phenotype.

8554252|Hyperlipidemia and pancreatitis during pregnancy in two sisters with a mutation in the lipoprotein lipase gene.

16025741|Low adiponectin level in young normotensive men with a family history of essential hypertension.

7563073|Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.

11719428|Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

10633129|The molecular genetics of Marfan syndrome and related microfibrillopathies.

11506406|Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population.

9399901|Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

9663471|Systemic lupus erythematosus in three ethnic groups: I. The effects of HLA class II, C4, and CR1 alleles, socioeconomic factors, and ethnicity at disease onset. LUMINA Study Group. Lupus in minority populations, nature versus nurture.

8466491|Expression of non-ADP-ribosylatable, diphtheria toxin-resistant elongation factor 2 in Saccharomyces cerevisiae.

9186905|Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.

10420150|Expression and mutational analysis of the MADR2/Smad2 gene in human prostate cancer.

15064679|Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene.

10399756|A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

10480349|NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

10480356|Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

10420196|Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.

10480373|CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia.

12013982|[Very-long-chain acyl-CoA dehydrogenase deficiency]

12013983|[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency]

3463404|A new translocation--t(13;21)(q14;q22.1 or 21.2)--in acute myelogenous leukemia.

15217530|Mutations in the epidermal growth factor receptor tyrosine kinase may predict response to gefitinib in non-small-cell lung cancer.

15879435|Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between beta-agonist and corticosteroid pathways.

9450526|Quantification and characterization of total cellular p53 protein in colorectal cancer.

2898299|Single-step induction of mammary adenocarcinoma in transgenic mice bearing the activated c-neu oncogene.

8642248|Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains.

8642287|Arginine at positions 13 or 70-71 in pocket 4 of HLA-DRB1 alleles is associated with susceptibility to tuberculoid leprosy.

10545415|Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck.

10904006|Role of tumor necrosis factor-alpha gene locus in obesity and obesity-associated hypertension in French Canadians.

8707259|Tissue inhibitor of metalloproteinase-1 messenger RNA expression is enhanced relative to interstitial collagenase messenger RNA in experimental liver injury and fibrosis.

3102433|Human c-erbB-2 remains on chromosome 17 in band q21 in the 15;17 translocation associated with acute promyelocytic leukemia.

15578621|The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy.

12881702|BCL6 overexpression prevents increase in reactive oxygen species and inhibits apoptosis induced by chemotherapeutic reagents in B-cell lymphoma cells.

15122588|Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.

14499686|Association study of polymorphisms in the human estrogen receptor alpha gene and prostate cancer risk.

14499693|Low microsatellite instability and high loss of heterozygosity rates indicate dominant role of the suppressor pathway in squamous cell carcinoma of head and neck and loss of heterozygosity of 11q14.3 correlates with tumor grade.

14499696|RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor gene candidates for B-cell chronic lymphocytic leukemia.

15483648|Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

1516003|The establishment of an interleukin-6-dependent myeloma cell line (FLAM-76) carrying t(11;14)(q13;q32) chromosome abnormality from an aggressive nonsecretory plasma cell leukemia.

14675394|Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.

11448942|Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

8135797|A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.

9781639|Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.

11897817|Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

16286055|Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population.

8730290|Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

9450710|CCR5 chemokine receptor variant in HIV-1 mother-to-child transmission and disease progression in children. French Pediatric HIV Infection Study Group.

7658499|High frequency of chromosome 9p allelic loss and CDKN2 tumor suppressor gene alterations in squamous cell carcinoma of the bladder.

11830494|p14(ARF) nuclear overexpression in aggressive B-cell lymphomas is a sensor of malfunction of the common tumor suppressor pathways.

11140941|Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.

2537495|Mutants of human colon adenocarcinoma, selected for thymidylate synthase deficiency.

7959366|Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia.

2449606|Negative and positive regulation of human leukocyte antigen class I gene transcription in K562 leukemia cells.

9056109|Apolipoprotein E genotyping and phenotyping in type II diabetes mellitus patients with hypertriglyceridemia.

10362789|Stable expression in Chinese hamster ovary cells of mutated tau genes causing frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

15571623|Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

1150305|Linkage data on the MNSs blood group-red cell acid phosphatase realationship.

11496062|A mineralocorticoid receptor mutation causing human hypertension.

14550308|Metallothionein 2A interacts with the kinase domain of PKCmu in prostate cancer.

1910856|Immunoglobulin heavy chain allotypes in a sample of Sicilian patients with celiac disease.

1458451|A new nonrandom chromosomal abnormality, t(2;16)(p11.2;p11.2), possibly associated with poor outcome in childhood acute lymphoblastic leukemia.

1458454|Acute leukemia with t(1;3)(p36;q21), evolution to t(1;3)(p36;q21), t(14;17)(q32;q21), and loss of red cell A and Le(b) antigens.

11830542|MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

11830592|Pax3 down-regulation and shut-off of melanogenesis in melanoma B16/F10.9 by interleukin-6 receptor signaling.

12545090|No increase in protease resistance and a decrease in reverse transcriptase resistance mutations in primary HIV-1 infection: 1992-2001.

7834277|Improved risk assessment for insulin-dependent diabetes mellitus by analysis of amino acids in HLA-DQ and DRB1 loci.

7894480|Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

1729284|Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

12487383|Analysis of the virological response with respect to baseline viral phenotype and genotype in protease inhibitor-experienced HIV-1-infected patients receiving lopinavir/ritonavir therapy.

2838411|Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.

3099287|Intracytoplasmic phosphorylation sites of Tac antigen (p55) are not essential for the conformation, function, and regulation of the human interleukin 2 receptor.

1303261|Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome.

9876920|A cooperative folding unit in HIV-1 protease. Implications for protein stability and occurrence of drug-induced mutations.

15900229|Association of MAO A polymorphism and alcoholism in Brazilian females.

9603735|Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

16013021|Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

15879837|Outcome of gonadotropin therapy for male hypogonadotropic hypogonadism at university affiliated male infertility centers: a 30-year retrospective study.

15930362|High thymidylate synthase expression in colorectal cancer with microsatellite instability: implications for chemotherapeutic strategies.

9450901|Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.

10728718|Apoptosis and schizophrenia: is the tumour suppressor gene, p53, a candidate susceptibility gene?

2472634|Infectious potential of human immunodeficiency virus type 1 reverse transcriptase mutants with altered inhibitor sensitivity.

15842522|A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.

14043838|PLASMA CREATINE KINASE ACTIVITY IN MICE WITH HEREDITARY MUSCULAR DYSTROPHY.

9327086|ApoE genotype and Alzheimer's disease in adults with Down syndrome: meta-analysis.

14645561|Macrophage-tropic simian/human immunodeficiency virus chimeras use CXCR4, not CCR5, for infections of rhesus macaque peripheral blood mononuclear cells and alveolar macrophages.

7202587|Congenital dyserythropoietic anemia type III. studies on erythroid differentiation of blood erythroid progenitor cells (BFUE) in vitro.

11584049|No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.

9593015|A comparative study of major histocompatibility complex and red blood cell antigen phenotypes as risk factors for recurrent urinary tract infections in women.

12098778|Single-nucleotide polymorphisms in NGX6 gene and their correlation with nasopharyngeal carcinoma.

15305888|Type 1 diabetes is insulin -2221 MspI and CTLA-4 +49 A/G polymorphism dependent.

8913459|Emergence of protease inhibitor resistance mutations in human immunodeficiency virus type 1 isolates from patients and rapid screening procedure for their detection.

12031325|Tricarbocyanine cholesteryl laurates labeled LDL: new near infrared fluorescent probes (NIRFs) for monitoring tumors and gene therapy of familial hypercholesterolemia.

16226114|Epidermal growth factor receptor expression status in lung cancer correlates with its mutation.

10781757|Angiotensin-converting enzyme and apolipoprotein B polymorphisms in coronary artery disease.

15784872|Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia.

7658712|CD2 expression in acute promyelocytic leukemia is associated with microgranular morphology (FAB M3v) but not with any PML gene breakpoint.

11165318|Two putative tumor suppressor genes on chromosome arm 8p may play different roles in prostate cancer.

11890985|Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression.

1870215|Overexpression of the gag-pol precursor from human immunodeficiency virus type 1 proviral genomes results in efficient proteolytic processing in the absence of virion production.

12457456|Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus.

3180018|Myelodysplastic syndrome with Philadelphia-like chromosome without bcr rearrangement.

12876265|Shifts in angiotensin I converting enzyme insertion allele frequency across Europe: implications for Alzheimer's disease risk.

8700521|Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.

11807991|Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue.

14703452|[The role of the immunohistochemistry for hMLH1 and hMSH2 with detection of microsatellite instability to identify the kindreds with hereditary nonpolyposis colorectal cancer]

10633878|Absence of replication in the French population of the association between beta 2/NEUROD-A45T polymorphism and type 1 diabetes.

8095379|Defective glucoregulation of brain alpha 2-adrenoceptors in obesity-prone rats.

12964118|Decreasing sensitivity to RANTES (regulated on activation, normally T cell-expressed and -secreted) neutralization of CC chemokine receptor 5-using, non-syncytium-inducing virus variants in the course of human immunodeficiency virus type 1 infection.

12934064|Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1).

10327069|NF2 gene mutations and allelic status of 1p, 14q and 22q in sporadic meningiomas.

12362498|[Frequency of DRB1* and DQB1* alleles in Polish patients with dilated cardiomyopathy]

2166072|A case of male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency and hormonal profiles in the nuclear family.

15967942|Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.

7959760|Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint.

6271765|Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.

4236371|[Adrenal hirsutism (3-beta-hydroxysteroid dehydrogenase deficiency). Studies using chromatographic separation of the urinary 17-ketosteroid fraction. 3. On the differential diagnosis of adrenal hirsutism (M. Cushing, congenital adrenogenital syndrome)]

2018041|Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

1847520|Influence of chromosomal integration on glucocorticoid-regulated transcription of growth-stimulating papillomavirus genes E6 and E7 in cervical carcinoma cells.

8642955|Germline BRCA1 185delAG mutations in Jewish women with breast cancer.

9776213|The prothrombin 20210 G to A variation and thrombosis.

9716060|Survival in early-onset BRCA1 breast-cancer patients. Institut Curie Breast Cancer Group.

5433428|[The haptoglobin (Hp) and Gc group systems in leukemia patients]

9628240|Screening for variability in the ciliary neurotrophic factor (CNTF) gene: no evidence for association with human obesity.

7952630|Exon 8 mutation of p53 gene associated with nodal metastasis in non-small-cell lung cancer.

12788655|Small interfering RNAs expressed from a Pol III promoter suppress the EWS/Fli-1 transcript in an Ewing sarcoma cell line.

11378661|Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques.

9716145|Superficial vein thrombosis of lower limbs: influence of factor V Leiden, factor II G20210A and overweight.

7493016|Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase.

12781449|Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene.

7558055|Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus.

12663508|Permanent hair dyes and bladder cancer: risk modification by cytochrome P4501A2 and N-acetyltransferases 1 and 2.

2773935|Norrie disease gene is distinct from the monoamine oxidase genes.

15059617|Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

11790271|Genetics and prevention: a new look at high-density lipoprotein cholesterol.

10688336|Low plasma folate in combination with the 677 C-->T methylenetetrahydrofolate reductase polymorphism is associated with increased risk of coronary artery disease in Koreans.

9475595|Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

2497283|HLA-DR and DQ antigens in chronic lymphocytic leukemia: dissociation of expression revealed by cell surface, protein, and mRNA studies.

11371506|The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

9563468|Benzo[a]pyrene diol epoxide-induced 3p21.3 aberrations and genetic predisposition to lung cancer.

9209677|T-cell population of primary and secondary cutaneous B-cell lymphomas does not express the cutaneous lymphocyte-associated antigen (CLA).

15383404|Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations.

1175131|Concurrent monoclonal IGM and IGA proteins in lymphocytic lymphoma.

10593370|11beta-hydroxyandrostenedione and delta5-androstenediol as markers of adrenal androgen production in patients with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

2078518|Is the chromosome band 1p36 another hot-spot for rearrangements in uterine leiomyoma?

16131596|A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

10086729|Clonal chromosomal abnormalities in the stem cell compartment of patients with acute myeloid leukemia in morphological complete remission.

7503990|Loss of a neutralizing epitope by a spontaneous point mutation in the V3 loop of HIV-1 isolated from an infected laboratory worker.

16043746|C-174G polymorphism in the promoter of the interleukin-6 gene is associated with insulin resistance.

11283793|Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

12964504|Angiotensin-converting enzyme gene polymorphism as a potent risk factor for developing microalbuminuria in Japanese patients with type 2 diabetes mellitus: a 9-year follow-up study.

15654225|Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications.

12575848|Low frequency of beta-catenin gene mutations in pilomatricoma.

12904354|Bacterial diversity in cases of lung infection in cystic fibrosis patients: 16S ribosomal DNA (rDNA) length heterogeneity PCR and 16S rDNA terminal restriction fragment length polymorphism profiling.

14214133|HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GREECE. A STUDY AND A COMPARISON.

8660148|Motor changes in presymptomatic Huntington disease gene carriers.

14758132|Simultaneous mutations in K-ras and TP53 are indicative of poor prognosis in sporadic colorectal cancer.

14515015|Severe short stature and endogenous growth hormone resistance in twin brothers without growth hormone gene mutations.

3910974|Detection of a surface antigen on NIH3T3 cells transfected with a human leukemia oncogene.

11223659|Type III collagen deficiency in a family with intracranial aneurysms.

15205401|Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure.

12663790|Mutation patterns and structural correlates in human immunodeficiency virus type 1 protease following different protease inhibitor treatments.

10232404|Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

12515714|Mutations of the BCL6 proto-oncogene disrupt its negative autoregulation in diffuse large B-cell lymphoma.

11707432|Ganglioside GM3 participates in the pathological conditions of insulin resistance.

16108832|Influence of the C161T but not Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma on colorectal cancer in an Indian population.

9989616|Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.

11318791|The islet amyloid polypeptide (amylin) gene S20G mutation in Chinese subjects: evidence for associations with type 2 diabetes and cholesterol levels.

9989638|Surface protein p104 is involved in adhesion of Listeria monocytogenes to human intestinal cell line, Caco-2.

15925106|Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism.

6873944|Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

1905723|Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.

9415689|De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.

1351062|Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.

12515823|A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

13679209|Thiazolidinediones inhibit cell growth of human oral squamous cell carcinoma in vitro independent of peroxisome proliferator-activated receptor gamma.

15897560|Vascular endothelial growth factor polymorphisms in relation to breast cancer development and prognosis.

2798417|Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

12751759|Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension.

15830179|Hypoadiponectinaemia and high risk of type 2 diabetes are associated with adiponectin-encoding (ACDC) gene promoter variants in morbid obesity: evidence for a role of ACDC in diabesity.

15177960|Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene.

15596769|De novo KCNQ2 mutations in patients with benign neonatal seizures.

10026851|Expression of collagenase-3 (MMP-13) by tumor cells in squamous cell carcinomas of the head and neck.

2407346|Association of rare alleles of the Harvey ras protooncogene locus with lung cancer.

3877582|Use of HLA marker associations and HLA haplotype linkage to estimate disease risks in families with gluten-sensitive enteropathy.

2856251|Altered expression of the retinoblastoma (RB) gene in small-cell carcinoma of the lung.

15448795|Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up.

1381287|The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

7581385|Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

15235769|Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects.

11524736|Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

16156014|Gene symbol: ATP7B.  Disease: Wilson disease.

12239244|Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

10746558|A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

2166751|The production and purification of PCR-derived recombinant simian immunodeficiency virus p27 gag protein; its use in detecting serological and T-cell responses in macaques.

7947212|Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.

7588634|In vivo regulation of interleukin-2 receptor alpha gene transcription by the coordinated binding of constitutive and inducible factors in human primary T cells.

16101831|The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.

12816863|Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome.

7581406|Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.

7889516|Translocation (1;14)(p34;q11) and trisomy 8 in a T-cell acute lymphoblastic leukemia patient.

15897713|A novel single nucleotide polymorphism of the neuropeptide Y (NPY) gene associated with alcohol dependence.

15265946|Smad3 null mice develop airspace enlargement and are resistant to TGF-beta-mediated pulmonary fibrosis.

1835028|[Predicting insulin-dependent diabetes. Study of risk markers]

2738402|Site-specific antibodies distinguish single amino acid substitutions in position 57 in HLA-DQ beta-chain alleles associated with insulin-dependent diabetes.

11737895|Investigation of glutathione S-transferase zeta and the development of sporadic breast cancer.

1895259|Rheumatoid arthritis in Israeli Jews: shared sequences in the third hypervariable region of DRB1 alleles are associated with susceptibility.

11913566|Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.

7882351|Mutations in the p16INK4/MTS1/CDKN2, p15INK4B/MTS2, and p18 genes in primary and metastatic lung cancer.

15117986|Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.

9287250|MHC-derived peptides and the CD4+ T-cell repertoire: implications for autoimmune disease.

10834525|Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.

12357365|Quantitative assessment of WT1 expression by real time quantitative PCR may be a useful tool for monitoring minimal residual disease in acute leukemia patients.

11672987|Sex-specific longevity associations defined by Tyrosine Hydroxylase-Insulin-Insulin Growth Factor 2 haplotypes on the 11p15.5 chromosomal region.

9493074|Dentin dysplasia, type II linkage to chromosome 4q.

14244732|THE XG BLOOD GROUP SYSTEM: DATA ON 294 WHITE FAMILIES, MAINLY CANADIAN.

2106724|Lack of the G2m(n) allotype in IgG subclass deficiency, in IgG2 deficiency together with lack of G1m(a) and G3m(g), and in IgG3 deficiency together with lack of G1m(f) and G3m(b).

16186327|Molecular analysis of immunoglobulin genes in primary intraocular lymphoma.

15471865|A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

8968762|Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.

10533724|Transforming growth factor-alpha antisense vectors can inhibit glioma cell growth.

15195109|Frequent beta-catenin overexpression without exon 3 mutation in cutaneous lymphomas.

11005141|Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

11454007|An unsolved mystery of promoter variation in CETP gene and atherosclerosis.

1777480|Cloning of R kappa B, a novel DNA-binding protein that recognizes the interleukin-2 receptor alpha chain kappa B site.

12387515|Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome.

15837736|Somatic mutations of EGFR gene in squamous cell carcinoma of the head and neck.

9169458|HIV-1 Tat induces the expression of the interleukin-6 (IL6) gene by binding to the IL6 leader RNA and by interacting with CAAT enhancer-binding protein beta (NF-IL6) transcription factors.

3080042|Abnormalities of chromosome 7q and Tac expression in T cell leukemias.

8908616|Induction of c-fos protooncogene transcription and apoptosis by delta 12-prostaglandin J2 in human Pl-21 myeloid leukemia and RC-K8 pre-B lymphoma cells.

2349949|Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

8968849|Polymorphism of the beta 3-adrenergic receptor gene in morbid obesity.

14693720|Genome-wide search for type 2 diabetes/impaired glucose homeostasis susceptibility genes in the Chinese: significant linkage to chromosome 6q21-q23 and chromosome 1q21-q24.

11278441|Structural and functional identification of major histocompatibility complex class I-restricted self-peptides as naturally occurring molecular mimics of viral antigens. Possible role in CD8+ T cell-mediated, virus-induced autoimmune disease.

1358782|No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia.

3782855|Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

11697231|PPAR gamma/RXR as a molecular target for diabetes.

9646028|Molecular analysis of the p53 gene in pancreatic adenocarcinoma.

15047208|Genetic polymorphisms of GSTM1, p21, p53 and HPV infection with cervical cancer in Korean women.

9199601|Prognostic significance of Bcl-2 expression in localized squamous cell carcinoma of the head and neck.

12114433|Differential expression of FEZ1/LZTS1 gene in lung cancers and their cell cultures.

10202988|Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey.

15654957|DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray.

12114492|Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers.

11968083|Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.

15318033|An association study of PCQAP polymorphisms and schizophrenia.

9794116|Role of S20G mutation of amylin gene in insulin secretion, insulin sensitivity, and type II diabetes mellitus in Taiwanese patients.

8755915|Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

15890890|The CAG repeat polymorphism in the androgen receptor gene is associated with HDL-cholesterol but not with coronary atherosclerosis or myocardial infarction.

9403005|Characterization and sensitivity to interleukin 2 and interferon alpha of leukemic cells from a patient with large granular lymphocytic leukemia associated with chronic active Epstein-Barr virus infection.

3263125|Augmentation and stable expression of a novel transcription factor SII in CD4-positive cells on infection with human immunodeficiency virus type-1 (HIV-1).

11241272|Removal of the circumsporozoite protein (CSP) glycosylphosphatidylinositol signal sequence from a CSP DNA vaccine enhances induction of CSP-specific Th2 type immune responses and improvesprotection against malaria infection.

10074373|RecA protein of Mycobacterium tuberculosis possesses pH-dependent homologous DNA pairing and strand exchange activities: implications for allele exchange in mycobacteria.

12746398|The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

8148348|ApoB metabolism in familial hypercholesterolemia. Inconsistencies with the LDL receptor paradigm.

12174790|Haptoglobin genotypes are not associated with resistance to severe malaria in The Gambia.

9102207|An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer.

9558393|Highly sensitive fluorescence in situ hybridization method to detect double BCR/ABL fusion and monitor response to therapy in chronic myeloid leukemia.

1358911|Analysis by the polymerase chain reaction of histocompatibility leucocyte antigen-DR9-linked susceptibility to insulin-dependent diabetes mellitus.

1328863|Indistinguishable nuclear factor binding to functional core sites of the T-cell receptor delta and murine leukemia virus enhancers.

8111050|A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.

9463309|The haptoglobin-gene deletion responsible for anhaptoglobinemia.

9463315|Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.

9463337|HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

11725157|G-protein beta3 subunit C825T polymorphism: no association with risk for hypertension and obesity.

12269988|Genetic polymorphism of cytochrome P4501A1 and susceptibility to oral squamous cell carcinoma and oral precancer lesions associated with smoking/betel use.

15105287|Suppression of leukemia expressing wild-type or ITD-mutant FLT3 receptor by a fully human anti-FLT3 neutralizing antibody.

8111133|Mapping of the agammaglobulinemia tyrosine kinase gene on the mouse X chromosome with interspecific crosses.

8449303|Linkage of maturity-onset diabetes of the young to the glucokinase gene--evidence of genetic heterogeneity.

14728986|Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion.

14728987|The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians.

8655135|Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

9493591|The histidin-rich glycoprotein Pro186/Ser polymorphism is not related to myocardial infarction in the ECTIM study.

8053493|Chromosome 17 abnormalities and TP53 mutations in adult soft tissue sarcomas.

10199792|Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

854962|Increased HLA-B7 antigen frequency in South Carolina blacks in association with sarcoidosis.

8956033|Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.

8956036|Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.

15040392|Epidemiology of breast cancer among BRCA mutation carriers: an overview.

8956053|A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene.

11248748|A Pro12Ala polymorphism in the human peroxisome proliferator-activated receptor-gamma 2 is associated with combined hyperlipidaemia in obesity.

10227402|Association of a lymphotoxin alpha gene polymorphism and atopy in Italian families.

15737195|Single-point haplotype scores telomeric to human leukocyte antigen-C give a high susceptibility major histocompatability complex haplotype for psoriasis in a caucasian population.

8530012|Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura.

8590228|[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death]

11095989|A patient with type 2 diabetes mellitus associated with mutations in calcium sensing receptor gene and mitochondrial DNA.

9852256|Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

4136790|HL-A antigens in leprosy.

12533682|Increased levels of low-density lipoprotein oxidation in patients with familial hypercholesterolemia and in end-stage renal disease patients on hemodialysis.

2124252|Interleukin 10, a novel B cell stimulatory factor: unresponsiveness of X chromosome-linked immunodeficiency B cells.

9794558|DNA polymorphisms in the ACE gene, serum ACE activity and the risk of nephropathy in insulin-dependent diabetes mellitus.

8986274|Genetic testing for breast cancer susceptibility: awareness and interest among women in the general population.

12232830|The central nervous system as a reservoir for simian immunodeficiency virus (SIV): steady-state levels of SIV DNA in brain from acute through asymptomatic infection.

14681097|Total cavopulmonary connection in a bedridden patient with Sotos syndrome.

8111380|Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

9676630|Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32.

7910706|Protein S and HIV infection. The role of anticardiolipin and anti-protein S antibodies.

15047736|Unfavourable prognosis of patients with trisomy 18q21 detected by fluorescence in situ hybridisation in t(11;18) negative, surgically resected, gastrointestinal B cell lymphomas.

11454686|Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history.

10822074|Platelet glycoprotein Ia gene dimorphism alpha2-807 in malignant arrhythmia in coronary artery disease.

8178805|Myelomonocytic crisis with t(5;17) and a p53 mutation in a patient with chronic myelogenous leukemia.

8178833|Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

15040535|Antiviral efficacy of abacavir in antiretroviral therapy-experienced adults harbouring HIV-1 with specific patterns of resistance to nucleoside reverse transcriptase inhibitors.

7664194|[The apolipoprotein E gene and Alzheimer disease phenotype]

10551321|Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.

10581440|Stable recombinant expression of the anti HIV-1 monoclonal antibody 2F5 after IgG3/IgG1 subclass switch in CHO cells.

3057885|Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus.

10220438|Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

10764406|Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.

14989371|Neutrophil adhesion molecule expression in familial Mediterranean fever: discordance between the intravascular regulation of beta2 integrin and L-selectin expression in acute attack.

11424748|[Genetic polymorphism of glutathione s-transferase as a factor predisposing to allergic dermatitis]

2249668|HIV-1 tat protein stimulates transcription by binding to a U-rich bulge in the stem of the TAR RNA structure.

15760344|A Tyrosinase missense mutation causes albinism in the Wistar rat.

10676657|Detection of plasma tumor DNA in head and neck squamous cell carcinoma by microsatellite typing and p53 mutation analysis.

8898652|Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

14563376|Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.

10403462|Expression of cell cycle and apoptosis-related proteins in sporadic odontogenic keratocysts and odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome.

6312085|Molecular cloning of integrated Gardner-Rasheed feline sarcoma virus: genetic structure of its cell-derived sequence differs from that of other tyrosine kinase-coding onc genes.

15790496|Frequent retention of heterozygosity for point mutations in p53 and Ikaros in N-ethyl-N-nitrosourea-induced mouse thymic lymphomas.

8118823|Alterations of the TP53 gene in human gliomas.

15253766|Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

15135805|Polymorphisms of chemokine and chemokine receptor genes in Type 1 diabetes mellitus and its complications.

10099141|Annexin II and bleeding in acute promyelocytic leukemia.

15619623|Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.

16214932|No association between EGF gene polymorphism and gastric cancer.

8206753|Glucocorticoid-mediated inhibition of interleukin-2 receptor alpha and -beta subunit expression by human T cells.

8625513|Beneficial effect of Salmonella typhimurium infection and of immunoglobulins from S. typhimurium-infected mice on the autoimmune disease of (NZB x NZW) F1 mice.

8530498|Constitutive and cytokine-induced expression of the melanoma growth stimulatory activity/GRO alpha gene requires both NF-kappa B and novel constitutive factors.

8266996|Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

9616877|A promoter mutation in the tumor necrosis factor alpha gene is not associated with preeclampsia.

3652620|Dietary triggers of insulin-dependent diabetes in the BB rat.

8590780|HLA-DQ screening for risk assessment of insulin dependent diabetes in northern Italy.

10403673|Genetic polymorphism near HIV-1 reverse transcriptase resistance-associated codons is a major obstacle for the line probe assay as an alternative method to sequence analysis.

12588373|Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes.

11567038|Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.

12764050|Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

11384101|p53 mutations in urinary bladder cancer.

15767856|Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.

9180139|Lack of association of cytochrome P450 2E1 genetic polymorphisms with the risk of human hepatocellular carcinoma.

14563642|Nucleophosmin-anaplastic lymphoma kinase of anaplastic large-cell lymphoma recruits, activates, and uses pp60c-src to mediate its mitogenicity.

9002042|Analysis of the candidate gene NRAMP1 in the first 61 ARC National Repository families for rheumatoid arthritis.

2844431|Chromosomal and c-K-ras oncogene alterations induced by a chemical carcinogen and phorbol ester in skin fibroblasts of individuals with familial polyposis coli.

10092129|Molecular cytogenetic delineation of the breakpoint at 18q21.1 in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue.

6826212|Evidence for the control of eosinophilia by the major histocompatibility complex in mice.

7634533|Association of HincII RFLP of low density lipoprotein receptor gene with obesity in essential hypertensives.

10882751|The ACE I allele is associated with increased risk for ruptured intracranial aneurysms.

2337873|Surface immunoglobulin-positive lymphoblastic lymphoma. A report of three cases.

9576180|Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.

9120024|A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro.

9488313|Familial meningioma: analysis of expression of neurofibromatosis 2 protein Merlin. Report of two cases.

9521977|Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

9069578|Paroxysmal nocturnal hemoglobinuria: new insights from murine Pig-a-deficient hematopoiesis.

11236254|[Cytogenetic changes in Ph(+) chronic granulocytic leukemia under the influence of interferon alpha (IFN-alpha) therapy]

9150178|Retinoic acid receptor expression abnormalities in lung cancer: important clues or major obstacles?

9180286|Detection of CBFbeta/MYH11 fusion transcripts in acute myeloid leukemia: heterogeneity of cytological and molecular characteristics.

12947160|Association between interleukin-1A polymorphism and cerebral amyloid angiopathy-related hemorrhage.

295036|3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.

8986904|M235-->T polymorphism of the angiotensinogen gene predicts hypertension in the elderly.

11773061|A novel NF-kappa B-inducing kinase-MAPK signaling pathway up-regulates NF-kappa B activity in melanoma cells.

12581384|The up-regulation of cyclooxygenase-2 expression in human buccal mucosal fibroblasts by arecoline: a possible role in the pathogenesis of oral submucous fibrosis.

11961959|[Association between cleft lip/palate phenotype and non syndrome microsatellite markers located in 6p, 17q and 19q]

1978559|Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

6460570|Parental alpha 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome.

5777415|Congenital effectiveness of an inhibitor of 3 beta-hydroxysteroid dehydrogenase administered before implantation of the rat blastula.

11118403|Methylenetetrahydrofolate reductase polymorphisms in preeclampsia and the HELLP syndrome.

12169859|The risk of obesity and the Trp64Arg polymorphism of the beta(3)-adrenergic receptor: effect modification by age.

9032351|Distinct domains of M-T2, the myxoma virus tumor necrosis factor (TNF) receptor homolog, mediate extracellular TNF binding and intracellular apoptosis inhibition.

7002950|Angiotensin and adrenal steroidogenesis: study of 21-hydroxylase-deficient congenital adrenal hyperplasia.

1640426|A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.

9333266|Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus.

6319835|Genetically determined conidial longevity is positively correlated with superoxide dismutase, catalase, glutathione peroxidase, cytochrome c peroxidase, and ascorbate free radical reductase activities in Neurospora crassa.

9303187|Differentiation intensifies the susceptibility of pheochromocytoma cells to antisense oligodeoxynucleotide-dependent suppression of acetylcholinesterase activity.

14681828|Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

14681830|Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

10333059|A common mutation of the methylenetetrahydrofolate reductase gene as a risk factor for diabetic nephropathy.

1376944|Paraffin section immunohistochemistry in the diagnosis of Hodgkin's disease and anaplastic large cell (CD30+) lymphomas.

9215303|Paraoxonase polymorphism (Gln192-Arg) is associated with coronary heart disease in Japanese noninsulin-dependent diabetes mellitus.

7689008|Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

7752774|Tyrosine hydroxylase gene and manic-depressive illness.

10451037|Abnormalities in insulin sensitivity, vascular resistance and erythrocyte cation transport are independent genetic traits in familial hypertension.

10789224|[Parameters of lipid metabolism and polymorphism of apolipoprotein aI and angiotensin-converting enzyme genes in patients with endometrial carcinoma]

12794535|Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML.

8136301|21-hydroxylase deficiency congenital adrenal hyperplasia.

6096132|Harvey murine sarcoma virus p21 ras protein: biological and biochemical significance of the cysteine nearest the carboxy terminus.

15612961|Glutathione-S-transferase gene polymorphisms (GSTT1, GSTM1, GSTP1) as increased risk factors for asthma.

15519141|Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.

2598168|Translocation t(13;17)(q12-14;p12-13) in two patients with lymphocytic lymphoma.

11206410|Male-to-female excess in diabetes diagnosed in early adulthood is not specific for the immune-mediated form nor is it HLA-DQ restricted: possible relation to increased body mass index.

15306190|APOA5 gene polymorphism modulates levels of triglyceride, HDL cholesterol and FERHDL but is not a risk factor for coronary artery disease.

11141491|Role of macrophage scavenger receptors in response to Listeria monocytogenes infection in mice.

2932643|Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.

14746952|Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia.

11442339|Spontaneous nisin-resistant Listeria monocytogenes mutants with increased expression of a putative penicillin-binding protein and their sensitivity to various antibiotics.

10877158|Apolipoprotein E polymorphism in cerebrovascular disease.

11472462|The apolipoprotein epsilon2 allele and the severity of coronary artery disease in Type 2 diabetic patients.

6731533|Linkage of genes for human esterase D and hereditary retinoblastoma.

11956200|The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.

14676054|Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

11141504|Biallelic inactivation of retinoic acid receptor beta2 gene by epigenetic change in breast cancer.

8430069|The c-rel protooncogene product represses NF-kappa B p65-mediated transcriptional activation of the long terminal repeat of type 1 human immunodeficiency virus.

12970307|The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.

12044926|DNA microarrays for assessing ovarian cancer gene expression.

10910800|Novel polymorphism in the gene region encoding the carboxyl-terminal intracellular domain of the NMDA receptor 2B subunit: analysis of association with schizophrenia.

15690192|A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome.

11206575|An engineered lox sequence containing part of a long terminal repeat of HIV-1 permits Cre recombinase-mediated DNA excision.

15183536|Contribution of epigenetic risk factors but not p53 codon 72 polymorphism to the development of cervical cancer in Northeastern Thailand.

1705688|Expression of the chronic myelogenous leukemia-associated p210bcr/abl oncoprotein in a murine IL-3 dependent myeloid cell line.

2112095|T cell receptor gene rearrangements of T lymphocytes infiltrating the liver in chronic active hepatitis B and primary biliary cirrhosis (PBC): oligoclonality of PBC-derived T cell clones.

7752915|Hemolysis in primary lipoprotein lipase deficiency.

12493873|Is schizophrenia linked to chromosome 1q?

3464343|Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia.

9032650|Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

1434926|Coexpression of class I major histocompatibility antigen and viral RNA in central nervous system of mice infected with Theiler's virus: a model for multiple sclerosis.

9421386|Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population.

11354642|De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

12910269|Cidea-deficient mice have lean phenotype and are resistant to obesity.

9039986|Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

12676893|Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

14977063|Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy.

1522852|Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps.

9215687|Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA.

10604146|Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.

9759648|Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.

11597833|Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

10965214|Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis.

15241484|Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.

12676903|Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10 -1082 promoter SNP and its interaction with TNF-alpha -308 promoter SNP.

9150704|Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain.

9150718|Markers for the gene ob and serum leptin levels in human morbid obesity.

15690375|Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases.

9488957|[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]

8312380|Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.

9634512|Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.

8731176|Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis.

15005611|NO binding induced conformational changes in a truncated hemoglobin from Mycobacterium tuberculosis.

12734753|Allelic imbalance regions on chromosomes 8p, 17p and 19p related to metastasis of hepatocellular carcinoma: comparison between matched primary and metastatic lesions in 22 patients by genome-wide microsatellite analysis.

12581900|Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.

10451484|Mammaglobin, a potential marker of breast cancer nodal metastasis.

8400265|Molecular analysis of T-cell receptor V beta chains of human T-cell chronic lymphocytic leukemia does not show intraclonal variability: implications for immunotherapy.

8400271|Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.

12458052|Modulation of monocytes matrix metalloproteinase-2, MT1-MMP and TIMP-2 by interferon-gamma and -beta: implications to multiple sclerosis.

12458054|CTLA4 dimorphisms and the multiple sclerosis phenotype.

15123617|The expression of the phosphotyrosine phosphatase DEP-1/PTPeta dictates the responsivity of glioma cells to somatostatin inhibition of cell proliferation.

15183808|Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.

15542400|Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

6400991|Immunoglobulin allotypes in psoriasis, psoriatic arthropathy and ankylosing spondylitis.

11801303|Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10.

1996082|Induction of c-jun expression in the myeloid leukemia cell line KG-1 by 1-beta-D-arabinofuranosylcytosine.

11801318|Translocation (5;17)(q13;q21) in a case with precursor T-lymphoblastic lymphoma/leukemia.

10634420|Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.

15005725|Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample.

7594485|Increased susceptibility of fas mutant MRL-lpr/lpr mice to staphylococcal enterotoxin B-induced septic shock.

3494742|Phenotypical and functional analysis of B lymphocytes of two siblings with combined immunodeficiency and defective expression of major histocompatibility complex (MHC) class II antigens on mononuclear cells.

6573155|Absence of close linkage between Hereditary spherocytosis (SPH) and 24 genetic marker systems including HLA and GM.

16139010|Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

14581340|TERC identified as a probable target within the 3q26 amplicon that is detected frequently in non-small cell lung cancers.

6701889|HLA haplotype segregation study in multiple case families of pulmonary tuberculosis.

8708409|Predominance of codon 215 mutation in reverse transcriptase-coding region of 3'-azido-3'-deoxythymidine (AZT)-resistant HIV-1 isolates after long-term AZT therapy.

11956627|Distinct promoter usage of mdm2 gene in human breast cancer.

11354926|Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease.

11891691|Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).

11196159|More frequent beta-catenin exon 3 mutations in gallbladder adenomas than in carcinomas indicate different lineages.

8041786|The Vpr protein of human immunodeficiency virus type 1 influences nuclear localization of viral nucleic acids in nondividing host cells.

14616291|Promoter polymorphism of IL-10 and severity of multiple sclerosis.

11196182|Specific p53 mutations detected in plasma and tumors of hepatocellular carcinoma patients by electrospray ionization mass spectrometry.

12428061|Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

11078228|G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels.

8944340|Lack of expression of dopamine D2 receptors in malignant melanoma: evidence for interaction of iodobenzofurans with melanin.

1996111|Involvement of long terminal repeat U3 sequences overlapping the transcription control region in human immunodeficiency virus type 1 mRNA 3' end formation.

6969137|Frequency of glucose-6-phosphate dehydrogenase deficiency in relation to altitude: a malaria hypothesis.

2839300|SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene.

11078270|Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43.

14734209|Polymorphism of interleukin-1 receptor antagonist gene and obesity.

11590899|HLA antigens in Malay patients with systemic lupus erythematosus: association with clinical and autoantibody expression.

16044003|CXCR4 overexpression during the course of HIV-1 infection correlates with the emergence of X4 strains.

7564479|Translocation (8;21)(q22;q22) and the myelodysplastic syndrome.

10634515|p73 mutations are not detected in sporadic and hereditary breast cancer.

15005841|Interactions of interleukin-6 promoter polymorphisms with dietary and lifestyle factors and their association with bone mass in men and women from the Framingham Osteoporosis Study.

14581427|Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing.

9358013|Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.

11861667|Altered distribution of platelet-activating factor- acetylhydrolase activity between LDL and HDL as a function of the severity of hypercholesterolemia.

10840305|Telomerase activity in pure pancreatic juice for the diagnosis of pancreatic cancer may be complementary to K-ras mutation.

9516824|Loss of chromosome 1p may have a prognostic value in localised neuroblastoma: results of the French NBL 90 Study. Neuroblastoma Study Group of the Société Française d'Oncologie Pédiatrique (SFOP).

12393282|New complex t(2;11;17)(p21;q23;q11), a variant form of t(2;11), associated with del(5)(q23q32) in myelodysplastic syndrome-derived acute myeloblastic leukemia.

12488337|Nongenomic activity and subsequent c-fos induction by estrogen receptor ligands are not sufficient to promote deoxyribonucleic acid synthesis in human endometrial adenocarcinoma cells.

3163957|Wheat germ agglutinin-binding protein changes in highly malignant Friend leukemia cells metastasizing to the liver.

11773858|A polymorphism (A118G) in the mu-opioid receptor gene affects the response to morphine-6-glucuronide in humans.

11530738|Predisposing genes, high-risk environments and coronary artery disease: LPL and fibrinogen as examples.

11838837|Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha, IL-1beta, and IL-1Ra genes.

15998776|Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

12032232|Cyclin E and chromosome instability in colorectal cancer cell lines.

1577476|An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy.

12664082|Further evidence for the association between obesity-related traits and the apolipoprotein A-IV gene.

11801556|Aberrant p53, mdm2, and proliferation differ in glioblastomas from long-term compared with typical survivors.

8643625|Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

12516095|Complete loss of HLA class I antigen expression on melanoma cells: a result of successive mutational events.

12039527|HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.

14970278|TSLC1 gene silencing in cervical cancer cell lines and cervical neoplasia.

9516969|Translocations involving chromosome 12p11-13, methotrexate metabolism, and outcome in childhood B-progenitor cell acute lymphoblastic leukemia: a Pediatric Oncology Group study.

10759878|Subcutaneous adipose tissue expression of tumour necrosis factor-alpha is not associated with whole body insulin resistance in obese nondiabetic or in type-2 diabetic subjects.

10759881|Lack of MEN1 gene mutations in 27 sporadic insulinomas.

14646599|Impaired phosphorylation and mis-localization of Bub1 and BubR1 are responsible for the defective mitotic checkpoint function in Brca2-mutant thymic lymphomas.

3705598|In vivo platelet activity and lipoprotein patterns in coronary artery disease.

12215229|Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress.

8798968|Constraints on the sequence diversity of the protease of human immunodeficiency virus type 1: a guide for drug design.

10752637|The HLA-DRB4 gene does not explain genetic susceptibility in HLA-DQ2-negative celiac disease.

8372956|Association of two esterase genes, a chromosomal inversion, and susceptibility to Plasmodium cynomolgi in the African malaria vector Anopheles gambiae.

6608352|The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population.

12393405|Increased frequency of mannose-binding lectin insufficiency among children with acute lymphoblastic leukemia.

10358097|Multiple integrase functions are required to form the native structure of the human immunodeficiency virus type I intasome.

10722648|Xanthine oxidase contributes to host defense against Burkholderia cepacia in the p47(phox-/-) mouse model of chronic granulomatous disease.

9817921|Mosaicism in sporadic neurofibromatosis 2 patients.

10995883|Mutation analysis of transforming growth factor beta type II receptor, Smad2, Smad3 and Smad4 in esophageal squamous cell carcinoma.

15755896|Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma.

15449030|Protein C system defects in Indian children with thrombosis.

1818313|Rearrangement of the E2A gene in the t (1;19) acute lymphoblastic leukemia.

8673920|Extensive polymorphisms observed in HIV-1 clade B protease gene using high-density oligonucleotide arrays.

12393546|Mutations in the VHL gene in sporadic apparently congenital polycythemia.

10080182|Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

1996558|Effect of beta-globin gene cluster haplotype on the hematological and clinical features of sickle cell anemia.

12032568|Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

8390037|Relative mitogenic activities of wild-type and retinoblastoma binding-defective SV40 T antigens in serum-deprived and senescent human diploid fibroblasts.

14521603|Interaction between oral contraceptive use and coagulation factor levels in deep venous thrombosis.

8096412|Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.

15607962|Lack of sustained regression of c-MYC-induced mammary adenocarcinomas following brief or prolonged MYC inactivation.

14551730|Synthesis of an HIV-1 Tat transduction domain-rotavirus enterotoxin fusion protein in transgenic potato.

12127686|Thyroid hormone receptor alpha 1 (c-erb A alpha 1) suppressed transforming phenotype of nasopharyngeal carcinoma cell line.

11071490|A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.

6573695|A family study of HLA antigens and other genetic markers in schizophrenia.

15472075|Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia.

7747814|Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression.

10777094|Both the HLA-CPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors.

1906342|Immunoglobulin gene rearrangements in acute lymphoblastic leukemia with the 9;11 translocation.

15567174|Loss of annexin A1 expression in human breast cancer detected by multiple high-throughput analyses.

7589082|Induction of diabetes in standard mice by immunization with the p277 peptide of a 60-kDa heat shock protein.

2744764|Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.

10446110|Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.

12634398|Disassembly of human immunodeficiency virus type 1 cores in vitro reveals association of Nef with the subviral ribonucleoprotein complex.

7983733|Human T-cell leukemia virus type II nucleotide sequences between env and the last exon of tax/rex are not required for viral replication or cellular transformation.

12187923|CD86 gene polymorphisms: no association with Type I diabetes among Finnish subjects.

9895244|Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

14521752|[An investigation of the relationship between Lepr gene Gln223Arg polymorphism and obstructive sleep apnea hypopnea syndrome]

9682216|A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

11196702|Linkage of human tumor necrosis factor-alpha to human osteoporosis by sib pair analysis.

9328447|MNDA binds NPM/B23 and the NPM-MLF1 chimera generated by the t(3;5) associated with myelodysplastic syndrome and acute myeloid leukemia.

1635664|Absence of c-fos induction in neonatal rat brain after seizures.

10328251|Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers.

9388681|Fenretinide inhibits phorbol ester-induced cyclooxygenase-2 expression in human colon adenocarcinoma cells.

9263528|A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation.

11071624|Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis.

8390289|High prevalence of mutations at codon 249 of the p53 gene in hepatocellular carcinomas from Senegal.

15479493|Absence of a correlation of androgen receptor gene CAG repeat length and prostate cancer risk in an African-American population.

11071662|Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.

12393803|Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

15472205|Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes.

2137202|A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

7677092|Tetralogy of Fallot associated with chromosome 22q11 deletion.

8661049|Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.

7835896|Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease.

12488953|First-phase insulin response in young healthy children at genetic and immunological risk for Type I diabetes.

16132582|Frequent loss of membranous E-cadherin in gastric cancers: A cross-talk with Wnt in determining the fate of beta-catenin.

8184583|[Dominant beta-thalassemia alleles in the Czech and Slovak population (beta-thalassemia mutations in 112(T-A) and 121(G-T) codons and the unstable Hradec Králové hemoglobin or alpha 2 beta 2 115 (G17) Ala-Asp)]

11886480|Angiotensin-converting enzyme gene polymorphism in relation to HLA-DR in sarcoidosis.

11319647|Genetic variation in the stress protein hsp70-2 gene is highly associated with obesity.

11136707|The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death.

2012125|Chromosome 6q deletion and retinal cone dystrophy.

2012126|Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

6267140|Complementing MHC- and non-MHC-linked genes and resistance to avian sarcoma virus-induced tumours in inbred lines of chickens.

14970870|Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

8844091|Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders.

7677190|p53 gene mutations, p53 protein accumulation and compartmentalization in colorectal adenocarcinoma.

14694113|Role of the ectodomain of the gp41 transmembrane envelope protein of human immunodeficiency virus type 1 in late steps of the membrane fusion process.

4112566|Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.

7494261|Convergent evolution within the V3 loop domain of human immunodeficiency virus type 1 in association with disease progression.

11555573|PTEN mutation located only outside exons 5, 6, and 7 is an independent predictor of favorable survival in endometrial carcinomas.

8154535|Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation.

9865424|Debrisoquine hydroxylase (CYP2D6) and prostate cancer.

2887109|Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia.

10446459|Lack of modulation of MDR1 gene expression by dominant inhibition of cAMP-dependent protein kinase in doxorubicin-resistant MCF-7 breast cancer cells.

3422230|Dioctanoylglycerol and phorbol esters regulate transcription of c-myc in human promyelocytic leukemia cells.

11673586|Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

9388959|[Association of polymorphism in 5'-regulatory region of angiotensinogen gene with essential hypertension]

11585745|Polymorphisms in glutathione S-transferases (GSTM1 and GSTT1) and survival after treatment for breast cancer.

1422985|High frequency of lipoprotein lipase deficiency in the Quebec population.

11372755|Ankyrin gene mutations in japanese patients with hereditary spherocytosis.

10027715|HIV-1 gp120 induces the activation of both c-fos and c-jun immediate-early genes in HEL megakaryocytic cells.

10087946|Trisomy 22 in acute myeloid leukemia: a marker for myeloid leukemia with monocytic features and cytogenetically cryptic inversion 16.

10087949|Development of acute promyelocytic leukemia with isochromosome 17q after BCR/ABL positive chronic myeloid leukemia.

3422328|Chromosome change at 16q22 in nonlymphocytic leukemia: clinical implication on leukemia patients with inv(16) versus del(16).

7617114|Association of DQB1*0302 alloantigens in Japanese pediatric patients with steroid-sensitive nephrotic syndrome.

3422334|Possible association of human growth hormone treatment with an occurrence of acute myeloblastic leukemia with an inversion of chromosome 3 in a child of pituitary dwarfism.

10682425|[Study on a deletion polymorphism of the angiotensin converting enzyme gene in pregnancy induced hypertension]

311199|Alpha-1-antitrypsin phenotypes in rheumatoid arthritis and systemic lupus erythematosus.

15685548|Gene therapy for colon cancer by adeno-associated viral vector-mediated transfer of survivin Cys84Ala mutant.

8307566|Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2.

8307588|Localization of the human growth arrest-specific gene (GAS1) to chromosome bands 9q21.3-q22, a region frequently deleted in myeloid malignancies.

7589551|Expression of cytochrome P450 CYP1B1 in breast cancer.

10504397|Mapping of the interaction between the immunodominant loop of the ectodomain of HIV-1 gp41 and human complement protein C1q.

7918071|Point mutations of the N-ras gene in the blood plasma DNA of patients with myelodysplastic syndrome or acute myelogenous leukaemia.

612095|[Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene]

15111511|Investigation of the human ANP gene in type 1 diabetic nephropathy: case-control and follow-up studies.

11467989|Selective development of a strong Th2 cytokine profile in high-risk children who develop atopy: risk factors and regulatory role of IFN-gamma, IL-4 and IL-10.

11066075|CD44 is a potential target of amplification within the 11p13 amplicon detected in gastric cancer cell lines.

1382222|Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

15111592|Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.

10476785|On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

15053827|The methylenetetrahydrofolate reductase gene variant C677T influences susceptibility to migraine with aura.

8242638|Infrequent mutations of the p53 gene in pulmonary carcinoid tumors.

15655550|Survivin, Survivin-2B, and Survivin-deItaEx3 expression in medulloblastoma: biologic markers of tumour morphology and clinical outcome.

6149514|Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.

14516314|Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy.

10321542|Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene.

9416831|Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.

8638606|Reduction of antithrombin III, protein C, and protein S levels and activated protein C resistance in polycythemia vera and essential thrombocythemia patients with thrombosis.

1565247|HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles.

9416844|Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds.

15141734|VDR and NRAMP1 gene polymorphisms in susceptibility to pulmonary tuberculosis among the Chinese Han population: a case-control study.

12810610|Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease.

8608566|Mutations of the p53 gene in the stool of patients with resectable colorectal cancer.

14752208|Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes.

973212|HLA antigens in schizophrenia.

7582472|Prevention by blockade of angiotensin subtype1-receptors of the development of genetic hypertension but not its heritability.

15236885|Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation.

12145261|Obesity is a critical risk factor for worsening of glucose tolerance in a family with the mutant insulin receptor.

12145290|Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans.

10777718|Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

1683257|In vivo regulation of low-density lipoprotein receptor and apolipoprotein B gene expressions by dietary fat and cholesterol in inbred strains of mice.

16009172|Polymorphism of the p53 tumor suppressor gene is associated with susceptibility to uterine leiomyoma.

9416954|Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11.

7911003|Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland.

12358323|BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

10835519|Increased midkine expression in hepatocellular carcinoma.

7941139|[The characteristics of histocompatibility antigen distribution in urolithiasis patients with a phosphorus metabolic disorder]

8874623|Identification of multiple HIV-1 cytotoxic T-cell epitopes presented by human leukocyte antigen B35 molecules.

10717617|Deletions in the 13q14 locus in adult lymphoblastic leukemia: rate of incidence and relevance.

6297752|Escherichia coli DNA topoisomerase I mutants have compensatory mutations in DNA gyrase genes.

7589821|Linkage analysis of 19 candidate regions for insulin resistance in familial NIDDM.

885557|Three cases of hereditary hemolytic anemia with pyrimidine 5'-nucleotidase deficiency in a Japanese family.

1359656|[Importance of the study of the binding of factor VIII to von Willebrand factor in hemophilia A]

14759637|Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.

15537899|A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration.

10983635|Protease sequences from HIV-1 group M subtypes A-H reveal distinct amino acid mutation patterns associated with protease resistance in protease inhibitor-naive individuals worldwide. HIV Variant Working Group.

7670476|Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q.

9258285|Angiotensin I-converting enzyme and angiotensinogen gene polymorphisms in non-insulin-dependent diabetes mellitus. Lack of relationship with diabetic nephropathy and retinopathy in a Caucasian Mediterranean population.

10446963|Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer.

1382561|The translocation (1;14)(p34;q11) in human T-cell leukemia: chromosome breakage 25 kilobase pairs downstream of the TAL1 protooncogene.

11272157|Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene.

8455949|Expression of AML1-ETO fusion transcripts and detection of minimal residual disease in t(8;21)-positive acute myeloid leukemia.

12145460|Routine screening of (--(SEA)) alpha-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic zeta-globin chains.

16127213|Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

2042873|Serum cholesterol, low-density lipoprotein, and high-density lipoprotein in children of fathers with premature coronary heart disease.

11914755|Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France.

14729606|Genomic and expression analysis of the 8p11-12 amplicon in human breast cancer cell lines.

2107882|Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.

8598045|The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers.

2491784|Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

12476400|Significant linkage on chromosome 10p in families with bulimia nervosa.

14729628|p53 activation in chronic radiation-treated breast cancer cells: regulation of MDM2/p14ARF.

8543841|IL-10 cooperates with TNF-alpha to activate HIV-1 from latently and acutely infected cells of monocyte/macrophage lineage.

16150119|Genetic alteration and expression of the phosphoinositol-3-kinase/Akt pathway genes PIK3CA and PIKE in human glioblastomas.

15743765|Decreased stability and translation of T cell receptor zeta mRNA with an alternatively spliced 3'-untranslated region contribute to zeta chain down-regulation in patients with systemic lupus erythematosus.

11485247|Is exon 5 of the PTEN/MMAC1 gene a prognostic marker in anaplastic glioma?

7522542|Two distinct deleted regions on the short arm of chromosome 1 in neuroblastoma.

12145519|A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.

11272290|In vitro targeting of a cytotoxic analog of luteinizing hormone-releasing hormone AN-207 to ES-2 human ovarian cancer cells as demonstrated by microsatellite analyses.

10559017|Severe hyperlipidemia in apolipoprotein E2 homozygotes due to a combined effect of hyperinsulinemia and an SstI polymorphism.

2461765|The use of combined LDL affinity apheresis utilizing dextran sulfate cellulose columns and hypolipidemic medications in patients with severe hypercholesterolemia to assess regression of atherosclerosis.

2491867|Plasminogen Activator Italian Multicenter Study (PAIMS): comparison of intravenous recombinant single-chain human tissue-type plasminogen activator (rt-PA) with intravenous streptokinase in acute myocardial infarction.

1683566|Involvement of the RAF1 locus, at band 3p25, in the 3p deletion of small-cell lung cancer.

12446444|Analysis of TCR, pT alpha, and RAG-1 in T-acute lymphoblastic leukemias improves understanding of early human T-lymphoid lineage commitment.

10228112|HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype.

11698342|Cyclin D1 (CCND1) genotype is associated with tumour grade in sporadic pituitary adenomas.

12865275|Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

11485372|Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA genotypes and early coronary artery disease.

4197606|Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci.

12115544|Overexpression of the Wilms' tumor gene WT1 in de novo lung cancers.

6172870|Gene deletion in hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia.

15284265|Temozolomide as initial treatment for adults with low-grade oligodendrogliomas or oligoastrocytomas and correlation with chromosome 1p deletions.

11756153|Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.

15041166|HLA-DRB1 alleles encoding the "shared epitope" are associated with susceptibility to developing rheumatoid arthritis whereas HLA-DRB1 alleles encoding an aspartic acid at position 70 of the beta-chain are protective in Mexican Mestizos.

1352745|Normal C3b receptor (CR1) genomic polymorphism in patients with insulin-dependent diabetes mellitus (IDDM): is the low erythrocyte CR1 expression an acquired phenomenon?

12145752|Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

9529361|A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

9529363|Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

10559284|Persistent CCR5 utilization and enhanced macrophage tropism by primary blood human immunodeficiency virus type 1 isolates from advanced stages of disease and comparison to tissue-derived isolates.

10193428|Cytokine flow cytometry differentiates the clinical status of multiple sclerosis (MS) patients.

11668476|Restoration of endogenous wild-type p53 activity in a glioblastoma cell line with intrinsic temperature-sensitive p53 induces growth arrest but not apoptosis.

2037279|A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

1352883|Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

9494547|Gene expression and protein deposition of major basement membrane components and TGF-beta 1 in human breast cancer.

14752887|Ex vivo drug resistance in childhood acute myeloid leukemia on relapse is not higher than at first diagnosis.

12747594|The TNF-alpha gene NcoI polymorphism at position -308 of the promoter influences insulin resistance, and increases serum triglycerides after postprandial lipaemia in familiar obesity.

15319300|Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer.

10559335|Efficient processing of the immunodominant, HLA-A*0201-restricted human immunodeficiency virus type 1 cytotoxic T-lymphocyte epitope despite multiple variations in the epitope flanking sequences.

15856070|TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia.

11756346|SNP43 of CAPN10 and the risk of type 2 Diabetes in African-Americans: the Atherosclerosis Risk in Communities Study.

8230155|Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

2431990|Hepatic alpha 1-antitrypsin mRNA content in cirrhosis with normal and abnormal protease inhibitor phenotypes.

10948075|Dopamine D1 receptor gene polymorphism is associated with essential hypertension.

8957063|Intragenic homozygous deletions of MTS1 gene in gastric cancer in Taiwan.

11390536|Telomerase suppression by chromosome 6 in a human papillomavirus type 16-immortalized keratinocyte cell line and in a cervical cancer cell line.

6832582|Glucocorticoid-induced cleft palate in the mouse: two major histocompatibility complex, H-2, loci with different mechanisms.

9494620|Translocation (1;20)(q32;q13.3) in myelofibrosis following polycythemia vera.

9494621|Translocation (X;1)(p11.2;q21) in a papillary renal cell carcinoma in a 14-year-old girl.

10853003|Plasminogen-activator inhibitor type 1 and coronary artery disease.

9918209|The nuclear factor-kappa B RelA transcription factor is constitutively activated in human pancreatic adenocarcinoma cells.

10853029|Relation between food habits and p53 mutational spectrum in gastric cancer patients.

12358995|Immunoglobulin E in primary immunodeficiency diseases.

11397842|The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.

16127747|Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls.

8149652|Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.

8149653|Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.

12805404|Epigenetic regulation of proprotein convertase PACE4 gene expression in human ovarian cancer cells.

3028608|Coordinate changes in neuronal phenotype and surface antigen expression in human neuroblastoma cell variants.

11668614|Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

12476938|Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.

11668640|Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

7705956|Rejection of mouse melanoma elicited by local secretion of interleukin-2: implicating macrophages without T cells or natural killer cells in tumor rejection.

1347094|Mutations of p53 and ras genes in radon-associated lung cancer from uranium miners.

15731028|Susceptibility of germfree phagocyte oxidase- and nitric oxide synthase 2-deficient mice, defective in the production of reactive metabolites of both oxygen and nitrogen, to mucosal and systemic candidiasis of endogenous origin.

9464617|Acquired resistance to the anti-proliferative effect of interleukin-1 and interleukin-6 is a recessive phenotype in A375 human melanoma cells.

1984850|Reciprocal translocation involving 3q21 in an unusual myeloproliferative disorder with myelodysplastic features and prominent dysmegakaryopoiesis.

15613101|Presence of somatic hypermutation and activation-induced cytidine deaminase in acute lymphoblastic leukemia L2 with t(14;18)(q32;q21).

11307659|Lymphedema-distichiasis and FOXC2 gene mutations.

8832017|Oral tuberculosis following autologous bone marrow transplantation for Hodgkin's disease with interleukin-2 and alpha-interferon immunotherapy.

11999641|Angiotensin II type 1 receptor gene adenine/cytosine1166 polymorphism is not associated with mitral valve prolapse syndrome in Taiwan Chinese.

10918193|P53 polymorphism in codon 72 and risk of human papillomavirus-induced cervical cancer: effect of inter-laboratory variation.

9765592|A mutation in repB, the dictyostelium homolog of the human xeroderma pigmentosum B gene, has increased sensitivity to UV-light but normal morphogenesis.

7547249|Infrequent CDKN2 (MTS1/p16) gene alterations in human primary breast cancer.

2301012|A kinetic analysis of the effects of interleukin-2 diphtheria toxin fusion protein upon activated T cells.

8501146|The hypertriglyceridemia of acquired immunodeficiency syndrome is associated with an increased prevalence of low density lipoprotein subclass pattern B.

7911873|Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis.

10529547|Detection of HCV-specific sequences in chronic myopathy with hepatitis C: improvement with interferon-alpha 2A therapy.

6927915|Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.

9434727|The myxoma virus M-T4 gene encodes a novel RDEL-containing protein that is retained within the endoplasmic reticulum and is important for the productive infection of lymphocytes.

9434759|Systematic screening of the LDL-PLA2 gene for polymorphic variants and case-control analysis in schizophrenia.

15731267|The global transcriptional effects of the human papillomavirus E6 protein in cervical carcinoma cell lines are mediated by the E6AP ubiquitin ligase.

15731271|The C-terminal half of TSG101 blocks Rous sarcoma virus budding and sequesters Gag into unique nonendosomal structures.

9093026|Rupture of lens cataract: a novel hereditary recessive cataract model in the mouse.

3329717|The human int-1 gene is located at chromosome region 12q12-12q13 and is not rearranged in myxoid liposarcoma with t(12;16) (q13;p11).

11337906|Characterization of an apolipoprotein E3 variant (Arg 145-->His) associated with mild hypertriglyceridemia.

15467753|NHERF (Na+/H+ exchanger regulatory factor) gene mutations in human breast cancer.

10529625|Lipoprotein glomerulopathy: renal lipidosis induced by novel apolipoprotein E variants.

15284855|A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia.

15284862|Myeloid antigen positive acute lymphoblastic leukemia with the Philadelphia translocation and a jumping translocation of 1q in a child.

11124989|Delaying caspase activation by Bcl-2: A clue to disease retardation in a transgenic mouse model of amyotrophic lateral sclerosis.

8325631|Long range restriction mapping of 13q14.3 focused on the Wilson disease region.

8598867|A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis.

14652280|The V89L polymorphism in the 5-alpha-reductase type 2 gene and risk of breast cancer.

8172823|Cyclin D1 overexpression in non-Hodgkin's lymphoma with chromosome 11 bcl-1 rearrangement.

6197624|Properties of asparagine synthetase in asparagine-independent variants of Jensen rat sarcoma cells induced by 5-azacytidine.

10582682|Point mutations and deletions of the Bcl10 gene in solid tumors and malignant lymphomas.

11054085|Fibrinogen polymorphisms are not associated with the risk of myocardial infarction.

7848312|A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1 alpha polymorphism.

1310060|The t(15;17) breakpoint in acute promyelocytic leukemia cluster within two different sites of the myl gene: targets for the detection of minimal residual disease by the polymerase chain reaction.

15791568|Expression and mutational analysis of tyrosine kinase receptors c-kit, PDGFRalpha, and PDGFRbeta in ovarian cancers.

8656671|MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype.

1340180|Tumorigenicity and metastatic ability of MmB16 mouse melanoma cell line and its two Aleuria aurantia agglutinin resistant variants.

9158140|Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

15643524|Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk of gastric cancer: a case-control analysis in China.

12953811|Fluorescence in situ hybridization detection of chromosome IGH/BCL2 translocations from paraffin-embedded tissue: evaluation in follicular lymphoma.

10610343|The A16V signal peptide cleavage site mutation in the cationic trypsinogen gene and chronic pancreatitis.

11172040|Integrin activation controls metastasis in human breast cancer.

10582701|Human leukocyte antigen class I expression on squamous cell carcinoma cells regulates natural killer cell activity.

16175182|Interaction between the bone morphogenetic proteins and Ras/MAP-kinase signalling pathways in lung cancer.

14682474|Dominant negative protein kinase Cbeta improves 1alpha, 25-dihydroxy vitamin D3-induced insulin resistance.

14504318|Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

12221047|Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol.

7783419|A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

10617660|Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

15312690|Candidate regions of tumor suppressor gene by loss of heterozygosity analysis on chromosome 8p11.1-q13.3 in gastric cancer.

1648361|Expression of RB and p53 proteins in HPV-positive and HPV-negative cervical carcinoma cell lines.

11601682|Glutathione transferase P1 polymorphism in neuroblastoma studied by endonuclease restriction mapping.

9670843|Regulation of TNFalpha and TGFbeta-1 gene transcription by HIV-1 Tat in CNS cells.

16115038|NADPH oxidase-mediated oxidative stress: genetic studies of the p22(phox) gene in hypertension.

12075507|CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

12221115|Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension.

9246140|Atopy phenotype in subjects with variants of the beta subunit of the high affinity IgE receptor.

8950416|Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease.

8591848|Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2.

8049185|Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

12589429|The interleukin-6 (-174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians.

11024182|Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts.

8591889|Racial difference in the relationship of an angiotensin I-converting enzyme gene polymorphism to serum angiotensin I-converting enzyme activity.

9610778|Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.

8832595|Complement 4 locus II gene deletion and DQA1*0301 gene: genetic risk factors for IgA nephropathy and Henoch-Schönlein nephritis.

9459218|Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.

8980610|Expression and function of adhesion receptors in acute myelogenous leukemia: parallels with normal erythroid and myeloid progenitors.

1678604|Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease.

12376518|Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing.

218988|"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.

15673970|Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency.

12163596|Clustering patterns of cytotoxic T-lymphocyte epitopes in human immunodeficiency virus type 1 (HIV-1) proteins reveal imprints of immune evasion on HIV-1 global variation.

11774073|A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

11561042|Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism.

3259234|Expression of the CSF-1 gene in the blast cells of acute myeloblastic leukemia: association with reduced growth capacity.

8774959|Association of apolipoprotein E genotype with brain levels of apolipoprotein E and apolipoprotein J (clusterin) in Alzheimer disease.

10552962|Analysis of the B-cell receptor B29 (CD79b) gene in familial chronic lymphocytic leukemia.

11297581|Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

9452102|Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.

11260214|The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease.

9063476|[Topographic genomapping of p53 mutations in non-small cell lung cancer using in situ PCR]

6827414|Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency.

6100578|Complete env gene deletions of three replication-defective strains of Rous sarcoma virus and a model for the origin of their genetic structures.

9482285|Connexin 26 gene mutation and autosomal recessive deafness.

8799120|New approach for inhibiting Rev function and HIV-1 production using the influenza virus NS1 protein.

11297603|Effect of low-density lipoprotein apheresis on kinetics of apolipoprotein B in heterozygous familial hypercholesterolemia.

12559600|Evaluation of the atherogenic tendency of lipids and lipoprotein content and their relationships with oxidant-antioxidant system in patients with psoriasis.

8950770|Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.

10063326|[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]

7477025|Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.

12376743|Single-nucleotide polymorphisms in the class II region of the major histocompatibility complex in Japanese patients with immunoglobulin A nephropathy.

11325342|Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

11112347|Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.

1347918|Scc-1, a novel colon cancer susceptibility gene in the mouse: linkage to CD44 (Ly-24, Pgp-1) on chromosome 2.

11237519|The retinoblastoma gene: a prototypic and multifunctional tumor suppressor.

15999154|Association of TNF-alpha and TNF-beta gene polymorphism with steroid receptor expression in breast cancer patients.

12464649|Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

12464650|Association of HLA class I and II alleles and extended haplotypes with nasopharyngeal carcinoma in Taiwan.

15701845|Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer.

11054665|Tiam1 mutations in human renal-cell carcinomas.

6185057|The influence of dietary protein on the development of malaria.

9482422|A further case of a t(11;20)(p15;q11.2) translocation in an acute myeloid leukemia (FAB M2).

15390279|Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.

1129019|[Congenital hemolytic anemia due to triosephosphate isomerase deficiency]

9577556|[Study on the relationship between tumour necrosis factor gene polymorphism and prognosis in the patients with renal cell carcinoma]

10364325|Selection and characterization of human immunodeficiency virus type 1 mutants that are resistant to inhibition by the transdominant negative RevM10 protein.

15939065|Tryptophanyl-tRNA synthetase gene polymorphisms and risk of incident myocardial infarction.

3134384|Lipoprotein metabolism and the etiology of hyperlipidemia.

1766842|Genetic diagnosis of qualitative and quantitative antithrombin III deficiencies.

11899584|Analysis of gene-environment interaction in coronary heart disease: fibrinogen polymorphisms as an example.

15219467|Association between chromogranin b gene polymorphisms and schizophrenia in the Japanese population.

3435251|Relationship between LDL receptor activity and development of coronary heart disease in Japanese cases with heterozygous familial hypercholesterolemia.

12610352|The phenotype of Hurthle and Warthin-like papillary thyroid carcinomas is distinct from classic papillary carcinoma as to the expression of retinoblastoma protein and E2F-1 transcription factor.

14258341|HEMOGLOBIN STUDIES IN SARCOIDOSIS.

9093873|The TNF2 allele does not contribute towards susceptibility to systemic lupus erythematosus.

8255472|Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.

14740869|Association of Fcgamma receptor IIa (CD32) polymorphism with severe malaria in West Africa.

8072544|Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q.

2539148|Insulin receptor overexpression in a human pre-B acute lymphocytic leukemia cell line with a t(1;19) chromosome translocation near the INSR locus.

10936049|Cloning and analysis of the mouse Fanconi anemia group A cDNA and an overlapping penta zinc finger cDNA.

10364447|alpha-melanocyte-stimulating hormone inhibits NF-kappaB activation and IkappaBalpha degradation in human glioma cells and in experimental brain inflammation.

1979987|HLA in juvenile dermatitis herpetiformis: clinical heterogeneity correlated with DNA and serological polymorphism.

12823437|The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulation.

12823445|SPR1 gene near HLA-C is unlikely to be a psoriasis susceptibility gene.

11443523|A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q.

8468533|Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.

8732090|[Detection of the expression of P21, P53, P185 proteins and the mutation of ras, p53 genes in colorectal adenoma and carcinoma]

9216693|Localization of aberrant messenger RNA of epidermal growth factor receptor (EGFR) in malignant glioma.

11149916|Wasp, the Drosophila Wiskott-Aldrich syndrome gene homologue, is required for cell fate decisions mediated by Notch signaling.

15668422|Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

15006595|Myeloperoxidase polymorphism related to cardiovascular events in coronary artery disease.

10364515|Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

8880147|A novel mutation in the MITF gene causes Waardenburg syndrome type 2.

10577569|Lack of association of a common polymorphism of the plasminogen activator inhibitor-1 gene with coronary artery disease and myocardial infarction.

10723109|Linkage analysis of 150 high-risk prostate cancer families at 1q24-25.

1548029|Identification of immunoglobulin recombinant elements in human immunodeficiency virus type 1 envelope gene.

10334470|Additive effect of three noradrenergic genes (ADRA2a, ADRA2C, DBH) on attention-deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects.

6308032|The origin of plasma deoxycorticosterone in the syndrome of congenital adrenal hyperplasia and in acute states of adrenocorticotropin excess.

9753484|The factor V Leiden mutation increases the risk of venous thrombosis in patients with inflammatory bowel disease.

9088024|Allelic loss on chromosomes 3p, 5q and 17p in renal cell carcinomas.

8313366|Megabase pair deletions in mutant mammalian cells following exposure to amsacrine, an inhibitor of DNA topoisomerase II.

12948742|Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

15844203|MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women.

10188908|Prognostic role of p27Kip1 and apoptosis in human breast cancer.

6097530|NALL-1, an acute lymphoblastic leukemia cell line with peroxidase activity.

10482569|Characterization of the block in replication of nucleocapsid protein zinc finger mutants from moloney murine leukemia virus.

11112772|DSIF and NELF interact with RNA polymerase II elongation complex and HIV-1 Tat stimulates P-TEFb-mediated phosphorylation of RNA polymerase II and DSIF during transcription elongation.

10334569|Pleomorphic adenoma gene 1 is expressed in cultured benign and malignant salivary gland tumor cells.

9121777|Mutation analysis of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers.

14735155|Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.

8100480|p53 gene mutations and 17p allelic deletions in hepatocellular carcinoma from Japan.

10811102|Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear bodies and meiotic telomeres.

11802390|[Association of Fc gamma receptor genes with systemic lupus erythematosus]

12765970|Linkage and linkage disequilibrium mapping of genes influencing human obesity in chromosome region 7q22.1-7q35.

12765974|A polymorphism in the TCF7 gene, C883A, is associated with type 1 diabetes.

11325884|Enzymatic mutation detection method evaluated for detection of p53 mutations in cDNA from breast cancers.

2988332|Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

10695719|Highly related immunoglobulin light chain sequences in different multiple sclerosis patients.

14552332|Gene symbol: M19489, CYP17. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.

8614422|Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

6426241|Heterogeneous expression of dipeptidyl-amino-peptidase (DAP IV) in T-cell chronic lymphocytic leukemia.

10517668|Effect of overexpression of progesterone receptor A on endogenous progestin-sensitive endpoints in breast cancer cells.

8401490|The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

2620175|Hemoglobin H disease caused by two gene deletions.

15367913|Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.

15367920|A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

15154916|Reduced progression of atherosclerosis in apolipoprotein E-deficient mice treated with lacidipine is associated with a decreased susceptibility of low-density lipoprotein to oxidation.

9088350|DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load.

12695165|Familial Mediterranean fever associated pyrin mutations in Greece.

1967187|Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.

2981227|Ribonucleotide reductase activity and deoxyribonucleoside triphosphate metabolism during the cell cycle of S49 wild-type and mutant mouse T-lymphoma cells.

9635830|p53 mutations in non-small-cell lung cancers occurring in individuals without a past history of active smoking.

15006930|No association between genetic polymorphisms in IGF-I and IGFBP-3 and prostate cancer.

11072134|No association of serum levels of interleukin-6 and its soluble receptor components with a genetic variation in the 3'flanking region of the interleukin-6 gene in patients with multiple sclerosis.

11197306|Association of Fc gamma receptor IIIB, but not of Fc gamma receptor IIA and IIIA polymorphisms with systemic lupus erythematosus in Japanese.

560428|Elevated intracellular glycine associated with hypoxanthine-guanine phosphoribosyltransferase deficiency in glioma cells.

9452997|CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.

8709634|Molecular analysis of the PML/RAR alpha chimeric gene in pediatric acute promyelocytic leukemia.

2261642|Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.

12941820|LABAZ1: A metastatic tumor model for renal cell carcinoma expressing the carbonic anhydrase type 9 tumor antigen.

10577935|P53 codon 72 polymorphism and longevity: additional data on centenarians from continental Italy and Sardinia.

12429249|Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

9723710|The P9 pocket of HLA-DQ2 (non-Aspbeta57) has no particular preference for negatively charged anchor residues found in other type 1 diabetes-predisposing non-Aspbeta57 MHC class II molecules.

9595038|Askin tumor and acute myeloid leukemia in a patient with constitutional partial Y disomy.

12911785|Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population.

10936588|Genetic variations of the hepatic lipase gene in Korean patients with coronary artery disease.

15691789|p53 point mutation is rare in meningiomas from Singaporean patients.

11920583|Correlation between vascular endothelial growth factor-C expression and invasion phenotype in cervical carcinomas.

7595737|Low specificity of cytokeratin 19 reverse transcriptase-polymerase chain reaction analyses for detection of hematogenous lung cancer dissemination.

9021009|Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

6155694|An unusually large (83 amino acid residues) amyloid fibril protein AA from a patient with Waldenström's macroglobulinaemia and amyloidosis.

11137217|Analysis of the role of HLA-G in preeclampsia.

8644733|Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

8644767|Somatotrophinomas in multiple endocrine neoplasia type 1: a review of clinical phenotype and insulin-like growth factor-1 levels in a large multiple endocrine neoplasia type 1 kindred.

2231650|Sotos syndrome.

12783120|PAI-1 level and the PAI-1 4G/5G polymorphism in relation to risk of non-fatal myocardial infarction: results from the Stockholm Heart Epidemiology Program (SHEEP).

11809909|Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

15661753|Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

11408061|Consistent DNA losses on the short arm of chromosome 1 in a series of malignant gastrointestinal stromal tumors.

8915579|Stimulatory G-protein alpha-subunit mRNA levels are not increased in autopsied cerebral cortex from patients with bipolar disorder.

11408074|Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.

7954409|p53 gene mutations are associated with decreased sensitivity of human lymphoma cells to DNA damaging agents.

15385056|No major association between TGFBR1*6A and prostate cancer.

8792827|Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis.

8100855|Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

10051016|Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

14228962|[GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFECT OF ERYTHROCYTES. (SCREENING TESTS; ACUTE HEMOLYTIC ANEMIA)]

15814626|The p53 codon 72 proline allele is associated with p53 gene mutations in non-small cell lung cancer.

6574592|A new glucose 6-phosphate dehydrogenase variant (G-6-PD Verona) in a patient with myelodysplastic syndrome.

11461072|Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population.

15814640|SMAD4 as a prognostic marker in colorectal cancer.

12364472|Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

15601643|Association of a common variant of the CASP8 gene with reduced risk of breast cancer.

12151438|Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

11857015|A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.

12033531|Aldehyde dehydrogenase 2 (ALDH2) genotype affects rectal cancer susceptibility due to alcohol consumption.

10570905|A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.

12452325|A single-nucleotide polymorphism in C-type natriuretic peptide gene may be associated with hypertension.

15172121|Association of PTEN mutation with HPV-negative adenocarcinoma of the uterine cervix.

15902555|OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

15992827|Decreased beta-amyloid peptide42 in cerebrospinal fluid of patients with progressive supranuclear palsy and corticobasal degeneration.

15300855|Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

9718015|Overexpression of p53 predicts shorter survival in diffuse type gastric cancer.

15473001|Glutathione S-transferase M1, T1 and P1 genetic polymorphisms, cigarette smoking and gastric cancer risk.

8709921|[Male pseudohermaphroditism due to 17-alpha-hydroxylase deficiency]

16281377|[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives]

11197688|No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients.

11100125|Overexpression of the alpha1B-adrenergic receptor causes apoptotic neurodegeneration: multiple system atrophy.

12818290|Polymorphism of the N-acetyltransferase 2 gene, red meat intake, and the susceptibility of hepatocellular carcinoma.

9058648|Linkage and association studies of the natural resistance associated macrophage protein 1 (NRAMP1) locus in rheumatoid arthritis.

9058653|A dysfunctional allele of the mannose binding protein gene associates with systemic lupus erythematosus in a Spanish population.

7924532|Detection and sequencing of p53 gene mutations in bronchial biopsy samples in patients with lung cancer.

12422349|Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene.

15297414|Primary acute lymphoblastic leukemia cells use a novel promoter and 5'noncoding exon for the human reduced folate carrier that encodes a modified carrier translated from an upstream translational start.

11491307|One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

9811929|Novel immunogenic antigen homologous to hyaluronidase in meningioma.

9811934|Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

9653161|Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

12364657|Re: An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies, by Vaidya et al.

11945062|Correct integration mediated by integrase-LexA fusion proteins incorporated into HIV-1.

11408340|Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations.

11408348|Association of matrilysin mRNA expression with K-ras mutations and progression in pancreatic ductal adenocarcinomas.

10088627|p53 and genetic susceptibility to cervical cancer.

16288728|Differential effects of TGF-beta1 on telomerase activity in thyroid carcinoma cell lines.

10352195|Angiotensin I-converting enzyme genotype significantly affects progression of IgA glomerulonephritis in an italian population.

8609062|Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

12695689|Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol.

8732991|Vitamin D receptor gene polymorphisms and osteoporosis.

10447270|A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.

1879837|Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

1900270|bcl-2 translocation in Japanese B cell lymphoma: novel bcl-2 translocation with immunoglobulin heavy chain diversity segment.

14522892|Association of breast cancer risk with a GT dinucleotide repeat polymorphism upstream of the estrogen receptor-alpha gene.

9683359|Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations.

10051329|Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene.

2833750|Different regions of the immunoglobulin heavy-chain locus are involved in chromosomal translocations in distinct pathogenetic forms of Burkitt lymphoma.

12394842|Mixed chimerism of bone marrow CD34+ progenitor cells (genotyping, bcr/abl analysis) after allogeneic transplantation for chronic myelogenous leukemia.

11167787|Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

11702051|5-HT2A receptor gene promoter polymorphism -1438A/G and bipolar disorder.

9058804|TGF-beta differentially modulates epidermal growth factor-mediated increases in leukemia-inhibitory factor, IL-6, IL-1 alpha, and IL-1 beta in human thymic epithelial cells.

3784158|Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome.

8544194|Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

12665676|Presenilin-1 mutation sensitizes oligodendrocytes to glutamate and amyloid toxicities, and exacerbates white matter damage and memory impairment in mice.

16045729|Adenovirus-mediated gene delivery of interleukin-10, but not transforming growth factor beta, ameliorates the induction of Graves' hyperthyroidism in BALB/c mice.

16015645|Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22).

16015647|Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia.

9718329|Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

10359546|Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

15119544|Absence of association between the MCP-1 gene polymorphism and histological phenotype of lupus nephritis.

9748471|Structure-function relationships in the ezrin family and the effect of tumor-associated point mutations in neurofibromatosis 2 protein.

10352329|Transcripts of immunoglobulin germline mu: an amplified myeloid and B-lymphoid common gene program in various leukemias.

9352569|Catechol-O-methyltransferase Val158Met polymorphism: frequency analysis in Han Chinese subjects and allelic association of the low activity allele with bipolar affective disorder.

15112338|Association of tumor necrosis factor genetic polymorphism with chronic atrophic gastritis and gastric adenocarcinoma in Chinese Han population.

8301143|VH and V kappa segment structure of anti-insulin IgG autoantibodies in patients with insulin-dependent diabetes mellitus. Evidence for somatic selection.

2951844|Genomic HLA-DQ beta polymorphism associated with insulin-dependent diabetes mellitus. Analysis of possible functional significance.

2168505|Ki-1 antigen expression defines a favorable clinical subset of non-B cell non-Hodgkin's lymphoma.

10329585|Mapping of genetic deletions on the long arm of chromosome 4 in human esophageal adenocarcinomas.

12753653|HLA associations in type 1 diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes.

12753656|Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais.

12753658|TNF-alpha polymorphisms and type 2 diabetes mellitus in Taiwanese patients.

15084782|Apolipoprotein E polymorphism in ischemic cerebrovascular diseases and vascular dementia patients in Taiwan.

12540636|Systematic search for single nucleotide polymorphisms in the FOXC2 gene: the absence of evidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes.

10595502|Prion protein and the transmissible spongiform encephalopathy diseases.

15230351|Question. Do NOS2 promoter polymorphisms protect against malaria?

8727249|No association of the structural dopamine D2 receptor (DRD2) variant 311Cys with alcoholism.

9028966|Blastoid variants of mantle cell lymphoma: frequent bcl-1 rearrangements at the major translocation cluster region and tetraploid chromosome clones.

10984260|Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes.