Gene Frequency Concept

subject area of

• 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread  Academic Article
• A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function  Academic Article
• A DNA marker closely linked to the factor IX (haemophilia B) gene  Academic Article
• A Reanalysis of Protein Polymorphism in Drosophila Melanogaster, D. Simulans, D. Sechellia and D. Mauritiana: Effects of Population Size and Selection  Academic Article
• 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.  Academic Article
• A genome-wide association study of sporadic ALS in a homogenous Irish population  Academic Article
• A molecular genetic study of factor XI deficiency  Academic Article
• A novel candidate region for ALS on chromosome 14q11.2  Academic Article
• A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia  Academic Article
• AGTR1 gene variation: Association with depression and frontotemporal morphology  Academic Article
• APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia  Academic Article
• 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  Academic Article
• Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD  Academic Article
• Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population  Academic Article
• Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4Rgenes to obesity in Mexican children  Academic Article
• Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis  Academic Article
• Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis  Academic Article
• Assessing the effects of 35 European-derived BMI-associated SNPs in Mexican children  Academic Article
• Assigning a probability for paternity in apparent cases of mutation.  Academic Article
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Academic Article
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Academic Article
• Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data  Academic Article
• Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample  Academic Article
• Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia  Academic Article
• Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome  Academic Article
• Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events  Academic Article
• Association of Granulomatosis With Polyangiitis (Wegener's) WithHLA-DPB1*04andSEMA6AGene Variants: Evidence From Genome-Wide Analysis  Academic Article
• Association of Melanin-Concentrating Hormone Receptor 1 5′ Polymorphism With Early-Onset Extreme Obesity  Academic Article
• Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: Evidence for additional functions of EYS  Academic Article
• Association of polymorphisms of the tryptophan hydroxylase 2 gene with risk for bipolar disorder or suicidal behavior  Academic Article
• Association of renin–angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study  Academic Article
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Academic Article
• Association study of tryptophan hydroxylase 2 gene polymorphisms in bipolar disorder patients with panic disorder comorbidity  Academic Article
• Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects  Academic Article
• Associations of the FTO rs9939609 variant with discrete body fat depots and dietary intake in a multi-ethnic cohort  Academic Article
• Asymptotic rates of growth of the extinction probability of a mutant gene  Academic Article
• Bipolar disorder and 1513A>C P2RX7 polymorphism frequency  Academic Article
• Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder  Academic Article
• Breast cancer prognostic significance of a single nucleotide polymorphism in the proximal androgen response element of the prostate specific antigen gene promoter  Academic Article
• CARD15 and IL23R influences Crohnʼs disease susceptibility but not disease phenotype in a Brazilian population  Academic Article
• 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  Academic Article
• Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans  Academic Article
• Characterization of DCTN1 genetic variability in neurodegeneration  Academic Article
• Characterization of tumor necrosis factor–α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients  Academic Article
• Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications  Academic Article
• Clinical evaluation of a hemochromatosis next-generation sequencing gene panel  Academic Article
• Collagen platelet receptor polymorphisms integrin alpha2beta1 C807T and GPVI Q317L and risk of ischemic stroke  Academic Article
• Combined effects of MC4R and FTO common genetic variants on obesity in European general populations  Academic Article
• Comment on "A Common Genetic Variant Is Associated with Adult and Childhood Obesity"  Academic Article
• Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations  Academic Article
• Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease  Academic Article
• Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus  Academic Article
• Comprehensive Analysis of Genomic Variation in the LPA Locus and Its Relationship to Plasma Lipoprotein(a) in South Asians, Chinese, and European Caucasians  Academic Article
• Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies  Academic Article
• Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study  Academic Article
• Cost Effectiveness of EML4-ALK Fusion Testing and First-Line Crizotinib Treatment for Patients With Advanced ALK-Positive Non–Small-Cell Lung Cancer  Academic Article
• Cytochrome P450 2E1 Gene Polymorphisms/Haplotypes and Anti-Tuberculosis Drug-Induced Hepatitis in a Chinese Cohort  Academic Article
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?  Academic Article
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Academic Article
• Decay of individual Escherichia coli trp messenger RNA molecules is sequentially ordered  Academic Article
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Academic Article
• Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis  Academic Article
• Detecting recent speciation events: the case of the finless porpoise (genus Neophocaena)  Academic Article
• Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan  Academic Article
• Dinucleotide repeat polymorphism at the D21S65 locus  Academic Article
• Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals  Academic Article
• ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study  Academic Article
• Effects of Source of DNA on Genotyping Success Rates and Allele Percentages in the Preschoolers with Attention-Deficit/Hyperactivity Disorder Treatment Study (PATS)  Academic Article
• Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant  Academic Article
• Ethnicity Does Not Affect the Homocysteine-Lowering Effect of B-Vitamin Therapy in Singaporean Stroke Patients  Academic Article
• Evaluating the effects of historic bottleneck events: an assessment of microsatellite variability in the endangered, North Atlantic right whale  Academic Article
• Evaluating the transferability of 15 European-derived fasting plasma glucose SNPs in Mexican children and adolescents  Academic Article
• Evaluation of the Disease Liability of CFTR Variants  Academic Article
• Evidence for a link between local and seasonal cycles in gene frequencies and latitudinal gene clines in a cyclic parthenogen  Academic Article
• Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index  Academic Article
• Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency  Academic Article
• Extremes of Unexplained Variation as a Phenotype  Academic Article
• Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis  Academic Article
• Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans  Academic Article
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Academic Article
• Fine-mapping of 98 obesity loci in Mexican children  Academic Article
• Fine-scale genetic analyses reveal unexpected spatial-temporal heterogeneity in two natural populations of the commercial mushroom Agaricus bisporus  Academic Article
• Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.  Academic Article
• Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome  Academic Article
• GENETIC HETEROGENEITY WITHIN ELECTROPHORETIC "ALLELES" OF XANTHINE DEHYDROGENASE IN DROSOPHILA PSEUDOOBSCURA  Academic Article
• GENIC VARIATION IN ABUNDANT SOLUBLE PROTEINS OF DROSOPHILA MELANOGASTER AND DROSOPHILA PSEUDOOBSCURA  Academic Article
• Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations  Academic Article
• Genetic Determinants of “Cognitive Impairment, No Dementia”  Academic Article
• Genetic Risk Evaluation in Wet Age-Related Macular Degeneration Treatment Response  Academic Article
• Genetic contribution to waist-to-hip ratio in Mexican children and adolescents based on 12 loci validated in European adults  Academic Article
• Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair  Academic Article
• Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia  Academic Article
• Genetic risk factors associated with lipid-lowering drug-induced myopathies  Academic Article
• Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population  Academic Article
• Genetic variation of the St. Lawrence beluga whale population assessed by DNA fingerprinting  Academic Article
• Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci  Academic Article
• Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics  Academic Article
• Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants  Academic Article
• Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations  Academic Article
• Genome-wide association study identifies 48 common genetic variants associated with handedness  Academic Article
• Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry  Academic Article
• Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia  Academic Article
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Academic Article
• Immunocytological test to detect adult carriers of (--SEA/) deletional α-thalassaemia  Academic Article
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Academic Article
• Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity  Academic Article
• Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations  Academic Article
• Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population  Academic Article
• Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences  Academic Article
• Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies  Academic Article
• Individual common variants exert weak effects on the risk for autism spectrum disorders  Academic Article
• Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study  Academic Article
• Investigation on ERCC5 genetic polymorphisms and the development of gastric cancer in a Chinese population  Academic Article
• Is serotonin transporter polymorphism (5-HTTLPR) allele status a predictor for obsessive-compulsive disorder? A meta-analysis  Academic Article
• JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis  Academic Article
• Lack of Association of Ghrelin Precursor Gene Variants and Percentage Body Fat or Serum Lipid Profiles  Academic Article
• Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease  Academic Article
• Linkage disequilibrium and modification of risk for Huntington disease.  Academic Article
• Local Frequency Dependence and Global Coexistence  Academic Article
• Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features  Academic Article
• Low genic variation in male-reproductive-tract proteins of Drosophila melanogaster and D. simulans.  Academic Article
• Management of Inheritedvon Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients  Academic Article
• Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease  Academic Article
• Mendelian randomization of blood lipids for coronary heart disease  Academic Article
• Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height  Academic Article
• 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  Academic Article
• Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis  Academic Article
• Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF  Academic Article
• Modifier effects in autism at the MAO-A and DBH loci  Academic Article
• Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis  Academic Article
• NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population  Academic Article
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Academic Article
• New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins  Academic Article
• No Association between the 20210 G/A Prothrombin Gene Mutation and Premature Coronary Artery Disease  Academic Article
• Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.  Academic Article
• Nucleotide Variation in the Egfr Locus of Drosophila melanogaster  Academic Article
• Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders  Academic Article
• PedSplit: pedigree management for stratified analysis  Academic Article
• Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution  Academic Article
• Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study  Academic Article
• Platelet glycoprotein Ibα Kozak polymorphism is associated with an increased risk of ischemic stroke  Academic Article
• Polymorphisms in the Amino Acid Transporter Solute Carrier Family 6 (Neurotransmitter Transporter) Member 14 Gene Contribute to Polygenic Obesity in French Caucasians  Academic Article
• Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations  Academic Article
• RAD51 polymorphisms and breast cancer risk  Academic Article
• Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations  Academic Article
• Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes  Academic Article
• Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease  Academic Article
• Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant Plasmodium falciparum Isolates from India  Academic Article
• Replication of an Egfr-Wing Shape Association in a Wild-Caught Cohort of Drosophila melanogaster  Academic Article
• Resequencing Genomic DNA of Patients With Severe Hypertriglyceridemia (MIM 144650)  Academic Article
• Role of Macrophage Migration Inhibitory Factor in Granulomatosis With Polyangiitis  Conference Paper
• SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts  Academic Article
• SUBSTRATE-SPECIFIC ENZYME VARIATION IN NATURAL POPULATIONS OF DROSOPHILA PSEUDOOBSCURA  Academic Article
• Serotonin transporter allelic variation in mothers predicts maternal sensitivity, behavior and attitudes toward 6-month-old infants  Academic Article
• Sex solves Haldane’s dilemma  Academic Article
• Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population  Academic Article
• Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects  Academic Article
• Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada  Academic Article
• Spatial patterns of neutral and functional genetic variations reveal patterns of local adaptation in raccoon (Procyon lotor) populations exposed to raccoon rabies  Academic Article
• Stabilizing selection on microsatellite allele length at arginine vasopressin 1a receptor and oxytocin receptor loci  Academic Article
• TCF7L2 is associated with type 2 diabetes in nonobese individuals from Tunisia  Academic Article
• TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis  Academic Article
• 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  Academic Article
• Testing the Infinitely Many Genes Model for the Evolution of the Bacterial Core Genome and Pangenome  Academic Article
• The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study  Academic Article
• The Fat-Mass and Obesity-Associated (FTO) gene, physical activity, and risk of incident cardiovascular events in white women  Academic Article
• The GABA A-Receptor γ2 (GABRG2) Gene in obsessive-compulsive disorder  Academic Article
• The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension  Academic Article
• The effect of iron status on vascular health  Academic Article
• The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population  Academic Article
• The prospects for polymorphisms shared between species  Academic Article
• The variance of linkage disequilibrium between three loci in a finite population  Academic Article
• Towards a genetic architecture of cryptic genetic variation and genetic assimilation: The contribution of K. G. Bateman  Academic Article
• Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups  Academic Article
• Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population  Academic Article
• Tumor Necrosis Factor Alpha Gene Polymorphism Associated with Increased Susceptibility to Venous Leg Ulceration  Academic Article
• Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium  Academic Article
• Universal Newborn Screening for Hb H Disease in California  Academic Article
• Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia  Academic Article
• Vascular Endothelial Growth Factor Polymorphisms and Esophageal Cancer Prognosis  Academic Article
• α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Academic Article
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Academic Article