Results 21 to 30 of about 244,526 (128)

Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci [PDF]

open access: yes, 2013
Central obesity, measured by waist circumference (WC) or waist-hip ratio (WHR), is a marker of body fat distribution. Although obesity disproportionately affects minority populations, few studies have conducted genome-wide association study (GWAS) of fat
Burke, Gregory L.   +431 more
core   +1 more source

An Update on the Genetics of Usher Syndrome

open access: yesJournal of Ophthalmology, Volume 2011, Issue 1, 2011., 2011
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types.
José M. Millán   +6 more
wiley   +1 more source

Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

open access: yesGenetics Research International, Volume 2011, Issue 1, 2011., 2011
The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in
Célia Nogueira   +6 more
wiley   +1 more source

Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population [PDF]

open access: yesJournal of Sciences, Islamic Republic of Iran, 2017
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with ...
T. Bahrami   +3 more
doaj  

Loci

open access: yes, 2015
Loci contains information from both single locus and multiple loci estimates with the following fields: # Study: Reference # Population: Population description given in the source paper # Species: Species # Year: Year measurements made # Season:
Shinichi Nakagawa (134648)   +5 more
core   +2 more sources

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [PDF]

open access: yes, 2013
Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These
Vermeire, S   +308 more
core   +3 more sources

Hundreds of variants clustered in genomic loci and biological pathways affect human height [PDF]

open access: yes, 2010
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits(1)
Lawrence, Robert W   +999 more
core   +2 more sources

Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss [PDF]

open access: yesJournal of Sciences, Islamic Republic of Iran, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
M.R. Noori-Daloii
doaj  

Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution [PDF]

open access: yes, 2009
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist–hip ratio (WHR). We selected 26 SNPs
Boehnke, M.   +999 more
core   +1 more source

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. [PDF]

open access: yes, 2014
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.
Paternoster, Lavinia   +999 more
core   +4 more sources

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