Gene Frequency Concept

subject area of

• 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread  Journal Articles
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?  Journal Articles
• A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function  Journal Articles
• A DNA marker closely linked to the factor IX (haemophilia B) gene  Journal Articles
• A Reanalysis of Protein Polymorphism in Drosophila Melanogaster, D. Simulans, D. Sechellia and D. Mauritiana: Effects of Population Size and Selection  Journal Articles
• A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand.  Journal Articles
• A comprehensive study of genic variation in natural populations of Drosophila melanogaster. VI. Patterns and processes of genic divergence between D. melanogaster and its sibling species, Drosophila simulans.  Journal Articles
• A genome-wide association study of sporadic ALS in a homogenous Irish population  Journal Articles
• A molecular genetic study of factor XI deficiency  Journal Articles
• A novel candidate region for ALS on chromosome 14q11.2  Journal Articles
• A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia  Journal Articles
• AGTR1 gene variation: Association with depression and frontotemporal morphology  Journal Articles
• APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia  Journal Articles
• Activation of platelets by sera containing igg1 heparin-dependent antibodies: an explanation for the predominance of the Fcγrlla “low responder” (his131) gene in patients with heparin-induced thrombocytopenia  Journal Articles
• Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD  Journal Articles
• Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population  Journal Articles
• Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis  Journal Articles
• Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis  Journal Articles
• Assigning a probability for paternity in apparent cases of mutation.  Journal Articles
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Journal Articles
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Journal Articles
• Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data  Journal Articles
• Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample  Journal Articles
• Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia  Journal Articles
• Association of TLR4 polymorphisms with Mycobacterium avium subspecies paratuberculosis infection status in Canadian Holsteins  Journal Articles
• Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome  Journal Articles
• Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events  Journal Articles
• Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis  Journal Articles
• Association of common variants in the human eyes shut ortholog (EYS) with statin‐induced myopathy: Evidence for additional functions of EYS  Journal Articles
• Association of polymorphisms of the tryptophan hydroxylase 2 gene with risk for bipolar disorder or suicidal behavior  Journal Articles
• Association of renin–angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study  Journal Articles
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Journal Articles
• Association study of tryptophan hydroxylase 2 gene polymorphisms in bipolar disorder patients with panic disorder comorbidity  Journal Articles
• Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects  Journal Articles
• Associations of the FTO rs9939609 variant with discrete body fat depots and dietary intake in a multi-ethnic cohort  Journal Articles
• Asymptotic rates of growth of the extinction probability of a mutant gene  Journal Articles
• Bipolar disorder and 1513A>C P2RX7 polymorphism frequency  Journal Articles
• Bovine IFNGR2, IL12RB1, IL12RB2, and IL23R polymorphisms and MAP infection status  Journal Articles
• Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder  Journal Articles
• Breast cancer prognostic significance of a single nucleotide polymorphism in the proximal androgen response element of the prostate specific antigen gene promoter  Journal Articles
• CORRIGENDUM  Journal Articles
• Candidate genetic variants in the fibrinogen, methylenetetrahydrofolate reductase, and intercellular adhesion molecule-1 genes and plasma levels of fibrinogen, homocysteine, and intercellular adhesion molecule-1 among various race/ethnic groups: Data from the Women's Genome Health Study  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Characterization of tumor necrosis factor–α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients  Journal Articles
• Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications  Journal Articles
• Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel  Journal Articles
• Collagen platelet receptor polymorphisms integrin α2β1 C807T and GPVI Q317L and risk of ischemic stroke  Journal Articles
• Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations  Journal Articles
• Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease  Journal Articles
• Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus  Journal Articles
• Complexities of recapitulating polygenic effects in natural populations: replication of genetic effects on wing shape in artificially selected and wild-caught populations of Drosophila melanogaster  Journal Articles
• Comprehensive Analysis of Genomic Variation in the LPA Locus and Its Relationship to Plasma Lipoprotein(a) in South Asians, Chinese, and European Caucasians  Journal Articles
• Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies  Journal Articles
• Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study  Journal Articles
• Cost Effectiveness of EML4-ALK Fusion Testing and First-Line Crizotinib Treatment for Patients With Advanced ALK-Positive Non–Small-Cell Lung Cancer  Journal Articles
• Cytochrome P450 2E1 Gene Polymorphisms/Haplotypes and Anti-Tuberculosis Drug-Induced Hepatitis in a Chinese Cohort  Journal Articles
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Journal Articles
• Decay of individual Escherichia coli trp messenger RNA molecules is sequentially ordered  Journal Articles
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Journal Articles
• Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis  Journal Articles
• Detecting recent speciation events: the case of the finless porpoise (genus Neophocaena)  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Dinucleotide repeat polymorphism at the D21S65 locus  Journal Articles
• Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals  Journal Articles
• Effects of Source of DNA on Genotyping Success Rates and Allele Percentages in the Preschoolers with Attention-Deficit/Hyperactivity Disorder Treatment Study (PATS)  Journal Articles
• Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant  Journal Articles
• Ethnicity Does Not Affect the Homocysteine-Lowering Effect of B-Vitamin Therapy in Singaporean Stroke Patients  Journal Articles
• Evaluating the effects of historic bottleneck events: an assessment of microsatellite variability in the endangered, North Atlantic right whale  Journal Articles
• Evaluation of the Disease Liability of CFTR Variants  Journal Articles
• Evidence for a link between local and seasonal cycles in gene frequencies and latitudinal gene clines in a cyclic parthenogen  Journal Articles
• Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency  Journal Articles
• Extremes of Unexplained Variation as a Phenotype  Journal Articles
• Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis  Journal Articles
• Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans  Journal Articles
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Journal Articles
• Fine-scale genetic analyses reveal unexpected spatial-temporal heterogeneity in two natural populations of the commercial mushroom Agaricus bisporus  Journal Articles
• Fine-scale genetic structuring on Manacus manacus leks.  Journal Articles
• Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.  Journal Articles
• Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome  Journal Articles
• GENETIC HETEROGENEITY WITHIN ELECTROPHORETIC "ALLELES" OF XANTHINE DEHYDROGENASE IN DROSOPHILA PSEUDOOBSCURA  Journal Articles
• GENIC VARIATION IN ABUNDANT SOLUBLE PROTEINS OF DROSOPHILA MELANOGASTER AND DROSOPHILA PSEUDOOBSCURA  Journal Articles
• Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations  Journal Articles
• Genetic Determinants of “Cognitive Impairment, No Dementia”  Journal Articles
• Genetic Risk Evaluation in Wet Age-Related Macular Degeneration Treatment Response  Journal Articles
• Genetic Variations of TAP1 Gene Exon 3 Affects Gene Expression and Escherichia coli F18 Resistance in Piglets  Journal Articles
• Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair  Journal Articles
• Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia  Journal Articles
• Genetic risk factors associated with lipid‐lowering drug‐induced myopathies  Journal Articles
• Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population  Journal Articles
• Genetic variation of the St. Lawrence beluga whale population assessed by DNA fingerprinting  Journal Articles
• Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci  Journal Articles
• Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics  Journal Articles
• Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants  Journal Articles
• Genome-wide association study identifies 48 common genetic variants associated with handedness  Journal Articles
• Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry  Journal Articles
• Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia  Journal Articles
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Journal Articles
• Immunocytological test to detect adult carriers of (--SEA/) deletional α-thalassaemia  Journal Articles
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Journal Articles
• Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations  Journal Articles
• Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences  Journal Articles
• Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies  Journal Articles
• Individual common variants exert weak effects on the risk for autism spectrum disorders  Journal Articles
• Investigation on ERCC5 genetic polymorphisms and the development of gastric cancer in a Chinese population  Journal Articles
• Is serotonin transporter polymorphism (5-HTTLPR) allele status a predictor for obsessive-compulsive disorder? A meta-analysis  Journal Articles
• JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis  Journal Articles
• Lack of Association of Ghrelin Precursor Gene Variants and Percentage Body Fat or Serum Lipid Profiles  Journal Articles
• Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease  Journal Articles
• Local Frequency Dependence and Global Coexistence  Journal Articles
• Low genic variation in male-reproductive-tract proteins of Drosophila melanogaster and D. simulans.  Journal Articles
• Management of Inheritedvon Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients  Journal Articles
• Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease  Journal Articles
• Mendelian randomization of blood lipids for coronary heart disease  Journal Articles
• Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height  Journal Articles
• Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes  Journal Articles
• Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis  Journal Articles
• Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF  Journal Articles
• Modifier effects in autism at the MAO‐A and DBH loci  Journal Articles
• Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis  Journal Articles
• NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population  Journal Articles
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Journal Articles
• New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins  Journal Articles
• No Association between the 20210 G/A Prothrombin Gene Mutation and Premature Coronary Artery Disease  Journal Articles
• Nucleotide Variation in the Egfr Locus of Drosophila melanogaster  Journal Articles
• Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders  Journal Articles
• Pathogenic Germline Variants in 10,389 Adult Cancers  Journal Articles
• PedSplit: pedigree management for stratified analysis  Journal Articles
• Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution  Journal Articles
• Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study  Journal Articles
• Platelet glycoprotein Ibα Kozak polymorphism is associated with an increased risk of ischemic stroke  Journal Articles
• Population genetics of chronic kidney disease: The evolving story of APOL1  Journal Articles
• Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations  Journal Articles
• Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes  Journal Articles
• Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease  Journal Articles
• Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant Plasmodium falciparum Isolates from India  Journal Articles
• Replication of an Egfr-Wing Shape Association in a Wild-Caught Cohort of Drosophila melanogaster  Journal Articles
• Resequencing Genomic DNA of Patients With Severe Hypertriglyceridemia (MIM 144650)  Journal Articles
• Revealing the complex genetic architecture of obsessive–compulsive disorder using meta-analysis  Journal Articles
• Role of Macrophage Migration Inhibitory Factor in Granulomatosis With Polyangiitis  Conferences
• SUBSTRATE-SPECIFIC ENZYME VARIATION IN NATURAL POPULATIONS OF DROSOPHILA PSEUDOOBSCURA  Journal Articles
• Serotonin transporter allelic variation in mothers predicts maternal sensitivity, behavior and attitudes toward 6-month-old infants  Journal Articles
• Sex solves Haldane’s dilemma  Journal Articles
• Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada  Journal Articles
• Spatial patterns of neutral and functional genetic variations reveal patterns of local adaptation in raccoon (Procyon lotor) populations exposed to raccoon rabies  Journal Articles
• Stabilizing selection on microsatellite allele length at arginine vasopressin 1a receptor and oxytocin receptor loci  Journal Articles
• TNF-α −308 G/A polymorphism and responsiveness to TNF-α blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis  Journal Articles
• Testing the Infinitely Many Genes Model for the Evolution of the Bacterial Core Genome and Pangenome  Journal Articles
• The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study  Journal Articles
• The Fat-Mass and Obesity-Associated (FTO) gene, physical activity, and risk of incident cardiovascular events in white women  Journal Articles
• The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension  Journal Articles
• The association of adiponectin gene promoter variations with non-small cell lung cancer in a Han Chinese population.  Journal Articles
• The effect of iron status on vascular health  Journal Articles
• The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population  Journal Articles
• The hereditary adult-onset ataxias in South Africa  Journal Articles
• The prospects for polymorphisms shared between species  Journal Articles
• The variance of linkage disequilibrium between three loci in a finite population  Journal Articles
• Towards a genetic architecture of cryptic genetic variation and genetic assimilation: The contribution of K. G. Bateman  Journal Articles
• Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups  Journal Articles
• Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population  Journal Articles
• Tumor Necrosis Factor Alpha Gene Polymorphism Associated with Increased Susceptibility to Venous Leg Ulceration  Journal Articles
• Universal Newborn Screening for Hb H Disease in California  Journal Articles
• Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.  Journal Articles
• Use of Breed-Specific Single Nucleotide Polymorphisms to Discriminate Between Holstein and Jersey Dairy Cattle Breeds  Journal Articles
• Variability of polygenic prediction for body mass index in Africa  Journal Articles
• Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia  Journal Articles
• Vascular Endothelial Growth Factor Polymorphisms and Esophageal Cancer Prognosis  Journal Articles
• α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Journal Articles
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Journal Articles