Haplotypes

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  Subject Areas on Research

  • A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. 
  • A Functional Interleukin-18 Haplotype Predicts Depression and Anxiety through Increased Threat-Related Amygdala Reactivity in Women but Not Men. 
  • A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. 
  • A PheWAS approach in studying HLA-DRB1*1501. 
  • A Systems Approach Dissociates Fructose-Induced Liver Triglyceride from Hypertriglyceridemia and Hyperinsulinemia in Male Mice. 
  • A common variant on chromosome 9p21 affects the risk of myocardial infarction. 
  • A comparison of donor-specific and random transfusions in living-related renal transplantation and their effect on steroid withdrawal. 
  • A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians. 
  • A conserved sorting-associated protein is mutant in chorea-acanthocytosis. 
  • A cross-sectional survey of Plasmodium falciparum pfcrt mutant haplotypes in the Democratic Republic of Congo. 
  • A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression. 
  • A deep sequencing approach to estimate Plasmodium falciparum complexity of infection (COI) and explore apical membrane antigen 1 diversity. 
  • A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 
  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis. 
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • A global reference for human genetic variation. 
  • A haplotype map of the human genome. 
  • A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes. 
  • A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 
  • A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. 
  • A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. 
  • A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 
  • A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. 
  • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 
  • A novel haplotype-sharing approach for genome-wide case-control association studies implicates the calpastatin gene in Parkinson's disease. 
  • A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. 
  • A penalized likelihood approach for investigating gene-drug interactions in pharmacogenetic studies. 
  • A prospective study of venous thromboembolism in relation to factor V Leiden and related factors. 
  • A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity. 
  • A saturated map of common genetic variants associated with human height. 
  • A second generation human haplotype map of over 3.1 million SNPs. 
  • A simple method for computing exact probabilities of mutation numbers. 
  • A sparse transmission disequilibrium test for haplotypes based on Bradley-Terry graphs. 
  • A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • A whole-genome association study of major determinants for host control of HIV-1. 
  • ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention. 
  • APOB Genotypes and CDH13 Haplotypes in the Cholesterol-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. 
  • APOE region molecular signatures of Alzheimer's disease across races/ethnicities. 
  • APOE ε4-TOMM40 '523 haplotypes and the risk of Alzheimer's disease in older Caucasian and African Americans. 
  • APOE, TOMM40, and sex interactions on neural network connectivity. 
  • APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy. 
  • African-American HLA class II allele and haplotype diversity. 
  • African-American HLA class II allele and haplotype diversity. 
  • African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles. 
  • Allogeneic hematopoietic stem cell transplant using mismatched/haploidentical donors. 
  • Allotetraploid Mimulus sookensis are highly interfertile despite independent origins. 
  • An allele of HRAS1 3'variable number of tandem repeats is a frailty allele: implication for an evolutionarily-conserved pathway involved in longevity. 
  • An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. 
  • An integrated map of genetic variation from 1,092 human genomes. 
  • An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. 
  • Analysis of European mitochondrial haplogroups with Alzheimer disease risk. 
  • Analysis of HLA-DM polymorphism in juvenile dermatomyositis (JDM) patients. 
  • Ancient West African foragers in the context of African population history. 
  • Ancient polymorphism and functional variation in the primate MHC-DQA1 5' cis-regulatory region. 
  • Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial. 
  • Another surprise from the mitochondrial genome. 
  • Antenatal receipt of sulfadoxine-pyrimethamine does not exacerbate pregnancy-associated malaria despite the expansion of drug-resistant Plasmodium falciparum: clinical outcomes from the QuEERPAM study. 
  • Assessing potential functionality of catechol-O-methyltransferase (COMT) polymorphisms associated with pain sensitivity and temporomandibular joint disorders. 
  • Assessment of LD matrix measures for the analysis of biological pathway association. 
  • Association and interactions between DNA repair gene polymorphisms and adult glioma. 
  • Association between CASP8 and CASP10 polymorphisms and toxicity outcomes with platinum-based chemotherapy in Chinese patients with non-small cell lung cancer. 
  • Association between chromosome 2p16.3 variants and glaucoma in populations of African descent. 
  • Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck. 
  • Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. 
  • Association between treatment-emergent suicidal ideation with citalopram and polymorphisms near cyclic adenosine monophosphate response element binding protein in the STAR*D study. 
  • Association between two functional polymorphisms of insulin-like growth factor binding protein 3 and colorectal cancer risk in a Chinese population. 
  • Association of CYP2C19 polymorphisms and lansoprazole-associated respiratory adverse effects in children. 
  • Association of XRCC1 polymorphisms and risk of differentiated thyroid carcinoma: a case-control analysis. 
  • Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. 
  • Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers. 
  • Association of human aryl hydrocarbon receptor gene polymorphisms with risk of lung cancer among cigarette smokers in a Chinese population. 
  • Association of matrix metalloproteinase-8 gene variation with breast cancer prognosis. 
  • Association of mtDNA haplogroup F with healthy longevity in the female Chuang population, China. 
  • Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. 
  • Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer. 
  • Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. 
  • Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. 
  • Association test for X-linked QTL in family-based designs. 
  • Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis. 
  • Associations between HLA class I alleles and the prevalence of nasopharyngeal carcinoma (NPC) among Tunisians. 
  • Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • Associations, populations, and the truth: recommendations for genetic association studies in Arthritis & Rheumatism. 
  • Aurora-A and p16 polymorphisms contribute to an earlier age at diagnosis of pancreatic cancer in Caucasians. 
  • BRAF polymorphisms and the risk of ovarian cancer of low malignant potential. 
  • Balancing selection maintains hyper-divergent haplotypes in Caenorhabditis elegans. 
  • Beta-2 adrenergic receptor gene (ADRB2) polymorphism and risk for lung adenocarcinoma: a case-control study in a Chinese population. 
  • Blepharophimosis syndrome is linked to chromosome 3q. 
  • CASP3 polymorphisms and risk of squamous cell carcinoma of the head and neck. 
  • CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. 
  • Catechol O-methyltransferase haplotype predicts immediate musculoskeletal neck pain and psychological symptoms after motor vehicle collision. 
  • Characterization of the poly-T variant in the TOMM40 gene in diverse populations. 
  • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 
  • Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. 
  • Coevolution of the major histocompatibility complex and the t-complex in the mouse. I. Generation and maintenance of high complementarity associations. 
  • Coevolution of the major histocompatibility complex and the t-complex in the mouse. II. Modification of response to sharing of histocompatibility antigens. 
  • Coexistence of macular corneal dystrophy types I and II in a single sibship. 
  • Combined genotype and haplotype tests for region-based association studies. 
  • Common genetic variants of the β2-adrenergic receptor affect its translational efficiency and are associated with human longevity. 
  • Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis. 
  • Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. 
  • Common variation in the BRCA1 gene and prostate cancer risk. 
  • Common-variant associations with fragile X syndrome. 
  • Comparative gene genealogical analyses of strains of serotype AD identify recombination in populations of serotypes A and D in the human pathogenic yeast Cryptococcus neoformans. 
  • Complement factor H variant increases the risk of age-related macular degeneration. 
  • Complex multilocus effects of catechol-O-methyltransferase haplotypes predict pain and pain interference 6 weeks after motor vehicle collision. 
  • Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease. 
  • Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. 
  • Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. 
  • Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. 
  • Contrasting quaternary histories in an ecologically divergent sister pair of low-dispersing intertidal fish (Xiphister) revealed by multilocus DNA analysis. 
  • Convergent adaptation of human lactase persistence in Africa and Europe. 
  • Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1. 
  • Correspondence re: Zheng et al, Haplotype of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-control study. 11: 640-645, 2002. 
  • DNA repair gene XPC genotypes/haplotypes and risk of lung cancer in a Chinese population. 
  • DNA typing for HLA-A and HLA-B identifies disparities between patients and unrelated donors matched by HLA-A and HLA-B serology and HLA-DRB1. 
  • Deceased donor multidrug resistance protein 1 and caveolin 1 gene variants may influence allograft survival in kidney transplantation. 
  • Defining the contribution of CNTNAP2 to autism susceptibility. 
  • Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. 
  • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. 
  • Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 
  • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. 
  • Direct carrier testing in 14 families with haemophilia B. 
  • Disruptive mRNA folding increases translational efficiency of catechol-O-methyltransferase variant. 
  • Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction. 
  • Donor specific bone marrow cells suppress lymphocyte reactivity to donor antigens and differentially modulate TH1 and TH2 cytokine gene expression in the responder cell population. 
  • ERCC1 and ERCC2 variants predict survival in gastric cancer patients. 
  • Effect of catechol-O-methyltransferase polymorphism on response to propranolol therapy in chronic musculoskeletal pain: a randomized, double-blind, placebo-controlled, crossover pilot study. 
  • Effect of insulin-like growth factor gene polymorphisms alone or in interaction with diabetes on the risk of pancreatic cancer. 
  • Effect of polymorphisms in XPD on clinical outcomes of platinum-based chemotherapy for Chinese non-small cell lung cancer patients. 
  • Estimating haplotype relative risks on human survival in population-based association studies. 
  • Evaluating haplotype effects in case-control studies via penalized-likelihood approaches: prospective or retrospective analysis? 
  • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. 
  • Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 
  • Evidence for reciprocal origins in Polypodium hesperium (Polypodiaceae): A fern model system for investigating how multiple origins shape allopolyploid genomes 
  • Evidence that a locus for familial high myopia maps to chromosome 18p. 
  • Evidence that the human pathogenic fungus Cryptococcus neoformans var. grubii may have evolved in Africa. 
  • Evolutionary and biomedical insights from a marmoset diploid genome assembly. 
  • Evolutionary dynamics of self-incompatibility alleles in Brassica. 
  • Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Exon 3 polymorphisms and haplotypes of O6-methylguanine-DNA methyltransferase and risk of bladder cancer in southern China: a case-control analysis. 
  • Expansion of the human mu-opioid receptor gene architecture: novel functional variants. 
  • Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. 
  • Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C. 
  • Extensive chloroplast haplotype variation indicates Pleistocene hybridization and radiation of North American Arabis drummondii, A. x divaricarpa, and A. holboellii (Brassicaceae). 
  • Extensive haplotype diversity in African American mothers and their cord blood units. 
  • Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality. 
  • FKBP5 and emotional neglect interact to predict individual differences in amygdala reactivity. 
  • Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. 
  • Fas single nucleotide polymorphisms and risk of thyroid and salivary gland carcinomas: a case-control analysis. 
  • Favorable and unfavorable HLA class I alleles and haplotypes in Zambians predominantly infected with clade C human immunodeficiency virus type 1. 
  • Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 
  • Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. 
  • Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. 
  • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups. 
  • Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. 
  • Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. 
  • Functional divergence in tandemly duplicated Arabidopsis thaliana trypsin inhibitor genes. 
  • Functional genetic variants of XRCC4 and ERCC1 predict survival of gastric cancer patients treated with chemotherapy by regulating the gene expression. 
  • Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. 
  • Functional polymorphisms in the insulin-like binding protein-3 gene may modulate susceptibility to differentiated thyroid carcinoma in Caucasian Americans. 
  • Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China: a case-control analysis. 
  • Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. 
  • Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 
  • G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers. 
  • G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions. 
  • GATA2 is associated with familial early-onset coronary artery disease. 
  • GSNO reductase and beta2-adrenergic receptor gene-gene interaction: bronchodilator responsiveness to albuterol. 
  • GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence. 
  • Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. 
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 
  • Gene duplications at the chemokine locus on mouse chromosome 4: multiple strain-specific haplotypes and the deletion of secondary lymphoid-organ chemokine and EBI-1 ligand chemokine genes in the plt mutation. 
  • Gene-trait similarity regression for multimarker-based association analysis. 
  • Genes, demography, and life span: the contribution of demographic data in genetic studies on aging and longevity. 
  • Genetic Variants in Cyclooxygenase-2 Contribute to Post-treatment Pain among Endodontic Patients. 
  • Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations. 
  • Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype. 
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 
  • Genetic basis for individual variations in pain perception and the development of a chronic pain condition. 
  • Genetic control of the immune response to nuclease. V. Genetic linkage and strain distribution of anti-nuclease idiotypes. 
  • Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. 
  • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. 
  • Genetic mapping of a novel familial form of infantile hemangioma. 
  • Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. 
  • Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study. 
  • Genetic polymorphisms in the microRNA binding-sites of the thymidylate synthase gene predict risk and survival in gastric cancer. 
  • Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk. 
  • Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease. 
  • Genetic predisposition to lung adenocarcinoma among never-smoking Chinese with different epidermal growth factor receptor mutation status. 
  • Genetic structure and genealogy in the Sphagnum subsecundum complex (Sphagnaceae: Bryophyta). 
  • Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. 
  • Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. 
  • Genetic variants in GTF2H1 and risk of lung cancer: a case-control analysis in a Chinese population. 
  • Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis. 
  • Genetic variants in peroxisome proliferator-activated receptor-gamma gene are associated with risk of lung cancer in a Chinese population. 
  • Genetic variants in the integrin signaling pathway genes predict cutaneous melanoma survival. 
  • Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma. 
  • Genetic variation in heat shock protein 60 gene and coronary heart disease in China: tagging-SNP haplotype analysis in a case-control study. 
  • Genetic variation in human NPY expression affects stress response and emotion. 
  • Genetic variation in the odorant receptor OR2J3 is associated with the ability to detect the "grassy" smelling odor, cis-3-hexen-1-ol. 
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 
  • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 
  • Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. 
  • Genome-wide detection and characterization of positive selection in human populations. 
  • Genomewide Association Scan of a Mortality Associated Endophenotype for a Long and Healthy Life in the Long Life Family Study. 
  • Genomic correlates of variability in immune response to an oral cholera vaccine. 
  • Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution. 
  • Genotypes and haplotypes of the VEGF gene and survival in locally advanced non-small cell lung cancer patients treated with chemoradiotherapy. 
  • Genotypic diversity and clinical outcome of cryptococcosis in renal transplant recipients in Brazil. 
  • Grade-of-membership sibpair linkage analysis maps IDDM11 to chromosome 14q24.3-q31. 
  • HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. 
  • HLA-DR15 haplotype and multiple sclerosis: a HuGE review. 
  • HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. 
  • Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency. 
  • Haploidentical hematopoietic cell transplantation. 
  • Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. 
  • Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. 
  • Haplotype and genotypes of the VDR gene and cutaneous melanoma risk in non-Hispanic whites in Texas: a case-control study. 
  • Haplotype associations with quantitative traits in the presence of complex multilocus and heterogeneous effects. 
  • Haplotype of N-acetyltransferase 1 and 2 and risk of pancreatic cancer. 
  • Haplotype of signal transducer and activator of transcription 3 gene predicts cardiovascular disease in dialysis patients. 
  • Haplotype-based analysis: a summary of GAW16 Group 4 analysis. 
  • Haplotype-resolved assembly of diploid genomes without parental data. 
  • Haplotypes of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-control study. 
  • Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. 
  • Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. 
  • Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome. 
  • High genetic diversity in a remote island population system: sans sex. 
  • High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. 
  • High-resolution micro-epidemiology of parasite spatial and temporal dynamics in a high malaria transmission setting in Kenya. 
  • High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. 
  • Highly recombinant VGII Cryptococcus gattii population develops clonal outbreak clusters through both sexual macroevolution and asexual microevolution. 
  • Human Leukocyte Antigen B*14:01 and B*35:01 Are Associated With Trimethoprim-Sulfamethoxazole Induced Liver Injury. 
  • Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. 
  • Human genetic admixture. 
  • Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study. 
  • Human-Mediated Admixture and Selection Shape the Diversity on the Modern Swine (Sus scrofa) Y Chromosomes. 
  • Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. 
  • Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. 
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population. 
  • Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. 
  • Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. 
  • Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods. 
  • Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 
  • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. 
  • Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study. 
  • Importance sampling for the infinite sites model. 
  • Incongruence between genetic and morphological diversity in Microcebus griseorufus of Beza Mahafaly. 
  • Increased mutation and gene conversion within human segmental duplications. 
  • Increased prevalence of dhfr and dhps mutants at delivery in Malawian pregnant women receiving intermittent preventive treatment for malaria. 
  • Increased risk of low birth weight in women with placental malaria associated with P. falciparum VAR2CSA clade. 
  • Independent lineages of highly sulfadoxine-resistant Plasmodium falciparum haplotypes, eastern Africa. 
  • Inference on haplotype/disease association using parent-affected-child data: the projection conditional on parental haplotypes method. 
  • Influence of host genotype on progression to acquired immunodeficiency syndrome among children infected with human immunodeficiency virus type 1. 
  • Influence of single nucleotide polymorphisms in the MMP1 promoter region on cutaneous melanoma progression. 
  • Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma. 
  • Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer. 
  • Integrating ethics and science in the International HapMap Project. 
  • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. 
  • Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans. 
  • Interleukin 1 receptor antagonist (IL1RN) gene variants predict radiographic severity of knee osteoarthritis and risk of incident disease. 
  • Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. 
  • Interleukin-1β gene variants are associated with QTc interval prolongation following cardiac surgery: a prospective observational study. 
  • Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene. 
  • Intraspecific variation in symbiont genomes: bottlenecks and the aphid-buchnera association. 
  • Is there protective haplotype of dysbindin gene (DTNBP1) 3 polymorphisms for major depressive disorder. 
  • KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. 
  • Lack of association between adrenergic receptor genotypes and survival in heart failure patients treated with carvedilol or metoprolol. 
  • Lack of association between autism and SLC25A12. 
  • Length Polymorphisms in the Angiotensin I-Converting Enzyme Gene and the Serotonin-Transporter-Linked Polymorphic Region Constitute a Risk Haplotype for Depression in Patients with Coronary Artery Disease. 
  • Life, diversity and the pursuit of haplotypes. 
  • Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis. 
  • Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis. 
  • Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. 
  • Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. 
  • Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome. 
  • Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. 
  • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. 
  • Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Living-related kidney transplant or simultaneous pancreas-kidney for diabetic renal failure? 
  • Local-scale genetic structure in the peatmoss Sphagnum fuscum. 
  • Loss of the mismatched human leukocyte antigen haplotype in two acute myelogenous leukemia relapses after haploidentical bone marrow transplantation with post-transplantation cyclophosphamide. 
  • Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. 
  • Low genetic variation and no detectable population structure in aspergillus fumigatus compared to closely related Neosartorya species. 
  • Low prevalence of Pneumocystis pneumonia (PCP) but high prevalence of pneumocystis dihydropteroate synthase (dhps) gene mutations in HIV-infected persons in Uganda. 
  • Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes. 
  • Mapping human genetic diversity in Asia. 
  • Mapping of the mouse Rar loci encoding retinoic acid receptors RAR alpha, RAR beta and RAR gamma. 
  • Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort. 
  • Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers. 
  • Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 
  • Measures of linkage disequilibrium among neighbouring SNPs indicate asymmetries across the house mouse hybrid zone. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 
  • Menthol preference among smokers: association with TRPA1 variants. 
  • Merging pharmacometabolomics with pharmacogenomics using '1000 Genomes' single-nucleotide polymorphism imputation: selective serotonin reuptake inhibitor response pharmacogenomics. 
  • Methyl-CpG binding domain 1 gene polymorphisms and lung cancer risk in a Chinese population. 
  • Methylenetetrahydrofolate reductase polymorphisms and risk of squamous cell carcinoma of the head and neck: a case-control analysis. 
  • Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk of gastric cancer: a case-control analysis in China. 
  • Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. 
  • Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. 
  • Mistaken Identity: Another Bias in the Use of Relative Genetic Divergence Measures for Detecting Interspecies Introgression. 
  • Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. 
  • Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly. 
  • Mitochondrial DNA variation in human metabolic rate and energy expenditure. 
  • Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma. 
  • Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. 
  • Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. 
  • Modification of COMT-dependent pain sensitivity by psychological stress and sex. 
  • Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells. 
  • Multiple regions within 8q24 independently affect risk for prostate cancer. 
  • Multivariate analysis of donor-specific versus random transfusion protocols in haploidentical living-related transplants. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 
  • NOS2A and the modulating effect of cigarette smoking in Parkinson's disease. 
  • Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. 
  • Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. 
  • Natural positive selection and north-south genetic diversity in East Asia. 
  • New Genetic Approaches to AD: Lessons from APOE-TOMM40 Phylogenetics. 
  • Next-generation computational genetic analysis: multiple complement alleles control survival after Candida albicans infection. 
  • Nicotine dependence is associated with functional variation in FMO3, an enzyme that metabolizes nicotine in the brain. 
  • No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. 
  • Nomenclature for alleles of the human carboxylesterase 1 gene. 
  • Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma. 
  • Nonmyeloablative allogeneic hematopoietic stem cell transplant using mismatched/haploidentical donors: a review. 
  • North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. 
  • Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 
  • Novelty seeking and the dopamine D4 receptor gene (DRD4) revisited in Asians: haplotype characterization and relevance of the 2-repeat allele. 
  • On the origin of self-incompatibility haplotypes: transition through self-compatible intermediates. 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis. 
  • Patterns of variation within self-incompatibility loci. 
  • Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. 
  • Perspectives on the genetic basis of opioid-induced hyperalgesia. 
  • Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response. 
  • Phylogenetic analysis of phenotypically characterized Cryptococcus laurentii isolates reveals high frequency of cryptic species. 
  • Phylogeny of the leafy liverwort Ptilidium: cryptic speciation and shared haplotypes between the Northern and Southern Hemispheres. 
  • Phylogeography and historical ecology of the North Atlantic intertidal. 
  • Phylogeography of the Solanaceae-infecting Basidiomycota fungus Rhizoctonia solani AG-3 based on sequence analysis of two nuclear DNA loci. 
  • Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 
  • Plasmodium falciparum sulfadoxine resistance is geographically and genetically clustered within the DR Congo. 
  • Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease. 
  • Polymorphisms and haplotypes of serine hydroxymethyltransferase and risk of squamous cell carcinoma of the head and neck: a case-control analysis. 
  • Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women  
  • Polymorphisms in HLA class I genes associated with both favorable prognosis of human immunodeficiency virus (HIV) type 1 infection and positive cytotoxic T-lymphocyte responses to ALVAC-HIV recombinant canarypox vaccines. 
  • Polymorphisms in NF-kappaB inhibitors and risk of epithelial ovarian cancer. 
  • Polymorphisms in the AKT1 and AKT2 genes and oesophageal squamous cell carcinoma risk in an Eastern Chinese population. 
  • Polymorphisms in the ERCC5 gene and risk of esophageal squamous cell carcinoma (ESCC) in Eastern Chinese populations. 
  • Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma. 
  • Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer. 
  • Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. 
  • Population frequencies of the Triallelic 5HTTLPR in six Ethnicially diverse samples from North America, Southeast Asia, and Africa. 
  • Population genetic analyses reveal the African origin and strain variation of Cryptococcus neoformans var. grubii. 
  • Population genetic differentiation of the hydrothermal vent crab Austinograea alayseae (Crustacea: Bythograeidae) in the Southwest Pacific Ocean. 
  • Population history in Arabidopsis halleri using multilocus analysis. 
  • Population structure and local selection yield high genomic variation in Mimulus guttatus. 
  • Positive selection on MMP3 regulation has shaped heart disease risk. 
  • Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population. 
  • Post-Austronesian migrational wave of West Polynesians to Micronesia. 
  • Potential donor-recipient MYH9 genotype interactions in posttransplant nephrotic syndrome after pediatric kidney transplantation. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Progressive Cactus is a multiple-genome aligner for the thousand-genome era. 
  • Progressive island colonization and ancient origin of Hawaiian Metrosideros (Myrtaceae). 
  • Protective effect of CRHR1 gene variants on the development of adult depression following childhood maltreatment: replication and extension. 
  • QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. 
  • Quantitative trait locus and computational mapping identifies Kcnj9 (GIRK3) as a candidate gene affecting analgesia from multiple drug classes. 
  • RET polymorphisms and haplotypes and risk of differentiated thyroid cancer. 
  • Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations. 
  • Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. 
  • Rare genetic variants correlate with better processing speed. 
  • Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. 
  • Recognition by and in vitro induction of cytotoxic T lymphocytes against predicted epitopes of the immediate-early protein ICP27 of herpes simplex virus. 
  • Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. 
  • Recurrent polyploid origins and chloroplast phylogeography in the Arabis holboellii complex (Brassicaceae). 
  • Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. 
  • Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Refugial isolation and range expansions drive the genetic structure of Oxyria sinensis (Polygonaceae) in the Himalaya-Hengduan Mountains. 
  • Remarkable species diversity in Malagasy mouse lemurs (primates, Microcebus). 
  • Repeated range expansion and glacial endurance of Potentilla glabra (Rosaceae) in the Qinghai-Tibetan plateau. 
  • Reward-related ventral striatum reactivity mediates gender-specific effects of a galanin remote enhancer haplotype on problem drinking. 
  • Risk of ovarian cancer and inherited variants in relapse-associated genes. 
  • Robust estimation and testing of haplotype effects in case-control studies. 
  • Robust testing of haplotype/disease association. 
  • SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes. 
  • SLC6A4 variation and citalopram response. 
  • SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. 
  • SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. 
  • Saccharomyces cerevisiae: population divergence and resistance to oxidative stress in clinical, domesticated and wild isolates. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Selective sweeps and intercontinental migration in the cosmopolitan moss Ceratodon purpureus (Hedw.) Brid. 
  • Semi-automated assembly of high-quality diploid human reference genomes. 
  • Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men. 
  • Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility. 
  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 
  • Sequential utilization of hosts from different fly families by genetically distinct, sympatric populations within the Entomophthora muscae species complex. 
  • Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. 
  • Signatures of demography and recombination at coding genes in naturally-distributed populations of Arabidopsis lyrata subsp. petraea. 
  • Simple methods for assessing haplotype-environment interactions in case-only and case-control studies. 
  • Single nucleotide polymorphisms of matrix metallopeptidase 3 and risk of gliomas in a Chinese Han population. 
  • Species delimitation in lemurs: multiple genetic loci reveal low levels of species diversity in the genus Cheirogaleus. 
  • Statistical models for haplotype sharing in case-parent trio data. 
  • Stress, COMT Polymorphisms, and Depressive Symptoms in Older Australian Women: An Exploratory Study. 
  • Summary of contributions to GAW15 Group 13: candidate gene association studies. 
  • Systematic detection of positive selection in the human-pathogen interactome and lasting effects on infectious disease susceptibility. 
  • Systemic lupus erythematosus and genetic variation in the interleukin 1 gene cluster: a population based study in the southeastern United States. 
  • T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. 
  • TOMM40-APOE haplotypes are associated with cognitive decline in non-demented Blacks. 
  • Tagging single nucleotide polymorphisms in excision repair cross-complementing group 1 (ERCC1) and risk of primary lung cancer in a Chinese population. 
  • Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis. 
  • The APL test: extension to general nuclear families and haplotypes and examination of its robustness. 
  • The G72/G30 gene complex and cognitive abnormalities in schizophrenia. 
  • The Human Pangenome Project: a global resource to map genomic diversity. 
  • The International HapMap Project. 
  • The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 
  • The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer. 
  • The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. 
  • The association of enhancement of renal allograft survival by donor-specific blood transfusion with host MHC-linked inhibition of IgG anti-donor class I alloantibody responses. 
  • The comparative genomics and complex population history of Papio baboons. 
  • The distinction between juvenile and adult-onset primary open-angle glaucoma. 
  • The functional consequences of genetic variation on tyrosine hydroxylase (TH) expression 
  • The functional promoter polymorphism (-842G>C) in the PIN1 gene is associated with decreased risk of breast cancer in non-Hispanic white women 55 years and younger. 
  • The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. 
  • The miR-184 binding-site rs8126 T>C polymorphism in TNFAIP2 is associated with risk of gastric cancer. 
  • The narrow endemic Norwegian peat moss Sphagnum troendelagicum originated before the last glacial maximum. 
  • The probability of HLA-C matching between patient and unrelated donor at the molecular level: estimations based on the linkage disequilibrium between DNA typed HLA-B and HLA-C alleles. 
  • The role of HLA-A*33:01 in patients with cholestatic hepatitis attributed to terbinafine. 
  • The role of KIR genes and their cognate HLA class I ligands in childhood acute lymphoblastic leukemia. 
  • The role of class I major histocompatibility complex antigens in prolonging the survival of hepatic allografts in the rat. 
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. 
  • The scale of population structure in Arabidopsis thaliana 
  • The spatial scale of genetic subdivision in populations of Ifremeria nautilei, a hydrothermal-vent gastropod from the southwest Pacific. 
  • The ties that bind: genetic relatedness predicts the fission and fusion of social groups in wild African elephants. 
  • Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder. 
  • Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene. 
  • Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. 
  • Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. 
  • Unmanipulated or CD34 selected haplotype mismatched transplants. 
  • Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. 
  • Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. 
  • Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. 
  • VKORC1 haplotypes in five East-Asian populations and Indians. 
  • Variability of the SIRT3 gene, human silent information regulator Sir2 homologue, and survivorship in the elderly. 
  • Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. 
  • Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population. 
  • Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. 
  • Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia. 
  • Variation in PTX3 is associated with primary graft dysfunction after lung transplantation. 
  • Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 
  • X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design. 
  • X-linked high myopia associated with cone dysfunction. 
  • XRCC3 haplotypes and risk of gliomas in a Chinese population: a hospital-based case-control study. 
  • alpha-Synuclein gene haplotypes are associated with Parkinson's disease. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Li, Yi-Ju, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Noor, Mohamed A. F., Professor of Biology, Duke University
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Schultz, Thomas F., Assistant Professor of the Practice of Marine Molecular Conservation, Marine Science and Conservation
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology