Human Genetics - 2011

192 articles | Last updated: 2025-12-03 14:12:56
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Zebrafish: a model for the study of addiction genetics
Recent advances in the pharmacogenetics of clopidogrel
Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors
Genetic association between human chitinases and lung function in COPD
Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans Europeans
Effects of MAOA promoter methylation on susceptibility to paranoid schizophrenia
GWAS-linked GAK locus in Parkinson’s disease in Han Chinese and meta-analysis Han Chinese
Consistency of genome-wide associations across major ancestral groups
Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings
Utility of genetically modified mice for understanding the neurobiology of substance use disorders
Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin
Translational genetic approaches to substance use disorders: bridging the gap between mice and humans
Association of PDE4B polymorphisms and schizophrenia in Northwestern Han Chinese Northwestern Han Chinese
Modeling human neurodegenerative diseases in transgenic systems
Polymorphic NumtS trace human population relationships
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
Folate and vitamin B12-related genes and risk for omphalocele
Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians Asians
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23
Association of variants in BAT1-LTA-TNF-BTNL2 genes within 6p21.3 region show graded risk to leprosy in unrelated cohorts of Indian population
Association of IFNGR2 gene polymorphisms with pulmonary tuberculosis among the Vietnamese
A global view of the OCA2-HERC2 region and pigmentation
A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692
Genetic determinants of Tibetan high-altitude adaptation
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications
Genetics of GABAergic signaling in nicotine and alcohol dependence
Recombination networks as genetic markers in a human variation study of the Old World
Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans
Fine mapping of 14q24.1 breast cancer susceptibility locus
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II
Review of Aaron Gillette, Eugenics and the nature–nurture debate in the twentieth century 2007, paperback edition, 2011, New York: Palgrave Macmillan
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
Genome-wide association study identifies HMGN3 locus for spine bone size variation in Chinese
SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer
Alan E. H. Emery, Marcia L. H. Emery: The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon’s Disease
The genetics of kidney transplantation
Association study of the KCNJ3 gene as a susceptibility candidate for schizophrenia in the Chinese population Chinese population
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Michelle Webb (ed): Cancer Susceptibility: Methods and Protocols
High altitude adaptation in Daghestani populations from the Caucasus
Expression signature of epidermolysis bullosa simplex
Novel Alu retrotransposon insertion leading to Alström syndrome
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations Korean populations
Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing
Sex differences in disease risk from reported genome-wide association study findings
Associations between gene polymorphisms in fatty acid metabolism pathway and preterm delivery in a US urban black population US urban black population
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
Biobanking residual tissues
Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals
Analysis of family- and population-based samples in cohort genome-wide association studies
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Functional haplotypes of Fc gamma (Fcγ) receptor (FcγRIIA and FcγRIIIB) predict risk to repeated episodes of severe malarial anemia and mortality in Kenyan children
The impact of Converso Jews on the genomes of modern Latin Americans
From single biobanks to international networks: developing e-governance
Biobanks and the phantom public
Elof Axel Carlson: Mutation: the history of an idea from Darwin to genomics
Reflexive governance in biobanking: on the value of policy led approaches and the need to recognise the limits of law
Biobanking and public health: is a human rights approach the tie that binds?
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
Meta-analysis of new genome-wide association studies of colorectal cancer risk
Biobanking and international interoperability: samples
Mitochondrial Haplogroup X is associated with successful aging in the Amish
Young Min Kwon, Steven C. Ricke: High throughput next generation sequencing, methods and applications. Methods in molecular biology
The cell adhesion gene PVRL3 is associated with congenital ocular defects
Preimplantation genetic diagnosis: State of the ART 2011
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain
The art and science of biobanking
Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity
Identifiability in biobanks: models, measures, and mitigation strategies
John C. Avise: Inside the human genome: a case for non-intelligent design
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader–Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation
Common variants for atrial fibrillation: results from genome-wide association studies
Artifact due to differential error when cases and controls are imputed from different platforms
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
Mitochondrial DNA and inflammatory diseases
A polymorphism of the interferon-gamma-inducible protein 30 gene is associated with hyperglycemia in severely obese individuals
Risk factors for autism: translating genomic discoveries into diagnostics
Novel variant Pro143Ala in HTRA2 contributes to Parkinson’s disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria
Personalized medicine: new genomics, old lessons
A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q
Closure of population biobanks and direct-to-consumer genetic testing companies
Molecular genetic studies of gene identification for sarcopenia
Genomic databases access agreements: legal validity and possible sanctions
Mutations in the NRG1 gene are associated with Hirschsprung disease
Realizing the promise of population biobanks: a new model for translation
Biobanking and deceased persons
Attitudes on DNA ancestry tests
MHC region and risk of systemic lupus erythematosus in African American women African American
Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers
Integrative computational biology for cancer research
Evolutionary diversity and developmental regulation of X-chromosome inactivation
The road ahead: less travelled and more arduous than initially envisioned
Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD
Current status of genome-wide association studies in cancer
X chromosome inactivation in human and mouse pluripotent stem cells
The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions
Anticipation in hereditary disease: the history of a biomedical concept
X-inactivation and X-reactivation: epigenetic hallmarks of mammalian reproduction and pluripotent stem cells
The single active X in human cells: evolutionary tinkering personified
A miRNA-492 binding-site polymorphism in BSG (basigin) confers risk to psoriasis in Central South Chinese population Central South Chinese population
XCI in preimplantation mouse and human embryos: first there is remodelling…
Type 2 diabetes and obesity: genomics and the clinic
Somatic variation and cancer: therapies lost in the mix
Mary Lyon and the hypothesis of random X chromosome inactivation
Alterations of ATM and CADM1 in chromosomal 11q22.3–23.2 region are associated with the development of invasive cervical carcinoma
Population biobanks and returning individual research results: mission impossible or new directions?
A scaffold for X chromosome inactivation
Children and biobanks: a review of the ethical and legal discussion
A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
Xist regulation and function eXplored
Paul A Lombardo: A Century of Eugenics in America. From the Indiana Experiment to the Human Genome Era
Two-marker association tests yield new disease associations for coronary artery disease and hypertension
Genes that escape from X inactivation
Lionizing lyonization 50 years on
A mutation screen in patients with Kabuki syndrome
Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Genomic medicine and neurological disease
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8
Maternally transmitted foetal H19 variants and associations with birth weight
Mechanistic insights into chromosome-wide silencing in X inactivation
X-chromosome inactivation: molecular mechanisms from the human perspective
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders
RNAi: a potential new class of therapeutic for human genetic disease
ATXN-2 CAG repeat expansions are interrupted in ALS patients
Two novel mutations of the IRX4 gene in patients with congenital heart disease
The X-inactivation trans-activator Rnf12 is negatively regulated by pluripotency factors in embryonic stem cells
Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish model
Statistical approaches for the analysis of DNA methylation microarray data
Erratum to: Significant association of glutamate receptor, ionotropic N-methyl-d-aspartate 3A (GRIN3A), with nicotine dependence in European- and African-American smokers European- and African-American smokers; African-American smokers
Electronic medical records and personalized medicine
Preclinical strategies to define predictive biomarkers for therapeutically relevant cancer subtypes
Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia
Genetic counselling for personalised medicine
Translating genomics into improved population screening: hype or hope?
Genomic markers to tailor treatments: waiting or initiating?
Direct-to-consumer testing: if consumers are not anxious, why are policymakers?
Erratum to: Genetic analysis of Down syndrome-associated heart defects in mice
Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript
Genetic analysis of Down syndrome-associated heart defects in mice
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Cassidy and Allanson: Management of Genetic Syndromes, 3rd edition
The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA
Identification of QTL genes for BMD variation using both linkage and gene-based association approaches
The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity
Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility
Joakim Dillner: Methods in Biobanking
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Technology-specific error signatures in the 1000 Genomes Project data
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Recent progress in the study of the genetics of height
The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity
Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels
Revisiting Mendelian disorders through exome sequencing
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li–Fraumeni syndrome
Jane Gitschier: Speaking of genetics. A collection of interviews
Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI Study
Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease
Genetic contribution of the leukotriene pathway to coronary artery disease
A dynamic model for genome-wide association studies
Lingo2 variants associated with essential tremor and Parkinson’s disease
Mutations in Fanconi anemia genes and the risk of esophageal cancer
Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis
Rebecca Skloot: The immortal life of Henrietta Lacks
Genetic analysis of biological pathway data through genomic randomization
Germline PKHD1 mutations are protective against colorectal cancer
Common genetic variation in the 3′-untranslated region of gonadotropin-releasing hormone receptor regulates gene expression in cella and is associated with thyroid function, insulin secretion as well
BR-squared: a practical solution to the winner’s curse in genome-wide scans
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family
Genes in the insulin and insulin-like growth factor pathway and odds of metachronous colorectal neoplasia
Genomic and genealogical investigation of the French Canadian founder population structure
Transcriptional control of the human glucocorticoid receptor: identification and analysis of alternative promoter regions
A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients
Model-based prediction of human hair color using DNA variants
A genome-wide screen of gene–gene interactions for rheumatoid arthritis susceptibility