Results 21 to 30 of about 11,759,752 (209)

Allele frequency net database (AFND) 2020 update: gold-standard data classification, open access genotype data and new query tools

open access: yesNucleic Acids Res., 2019
The Allele Frequency Net Database (AFND, www.allelefrequencies.net) provides the scientific community with a freely available repository for the storage of frequency data (alleles, genes, haplotypes and genotypes) related to human leukocyte antigens (HLA)
F. Gonzalez-Galarza   +11 more
semanticscholar   +1 more source

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

open access: yesBrazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva   +4 more
doaj   +1 more source

The diversity of a distributed genome in bacterial populations [PDF]

open access: yesAnnals of Applied Probability 2010, Vol. 20, No. 5, 1567-1606, 2009
The distributed genome hypothesis states that the set of genes in a population of bacteria is distributed over all individuals that belong to the specific taxon. It implies that certain genes can be gained and lost from generation to generation. We use the random genealogy given by a Kingman coalescent in order to superimpose events of gene gain and ...
arxiv   +1 more source

IMPACT OF KRAS MUTATIONS IN CLINICAL FEATURES IN COLORECTAL CANCER

open access: yesABCD: Arquivos Brasileiros de Cirurgia Digestiva, 2020
Background: KRAS mutations are important events in colorectal carcinogenesis, as well as negative predictors of response to EGFR inhibitors treatment.
Renato Morato ZANATTO   +6 more
doaj   +2 more sources

Frecuencias alélicas, genotípicas y haplotípicas HLA-A, HLA-B, HLA-DRB1 en donantes fallecidos, Medellín, Colombia

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2007
Introducción. La caracterización genética del sistema HLA es de gran utilidad en estudios antropogenéticos, en la comprensión de mecanismos asociados a susceptibilidad o resistencia a diversas enfermedades, en los fenómenos inmunológicos durante el ...
Libia M. Rodríguez   +6 more
doaj   +1 more source

Frequency of occurrence of genetic polymorphisms associated with sports success in elite athletes in team sports

open access: yesСпортивная медицина: наука и практика, 2021
Objective: to evaluate the frequency of occurrence of polymorphisms rs1815739 (ACTN3 gene), rs2016520 (PPARD gene), rs1042713 (ADRB2 gene), rs1799945 (HFE gene) in athletes of high­performance sports.Materials and methods: genotyping was performed using ...
E. Yu. Sorokina   +2 more
doaj   +1 more source

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

open access: yesNew England Journal of Medicine, 2016
BACKGROUND Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected ...
C. Pritchard   +45 more
semanticscholar   +1 more source

Construction of a droplet digital PCR detection system for platelet HPA-3 and HPA-15 genotyping

open access: yesZhongguo shuxue zazhi
Objective To establish a highly sensitive detection method of platelet HPA-3 and HPA-15 genotyping by droplet digital PCR (ddPCR), and to explore the feasibility of applying it to the detection of human platelet antigen (HPA) compatibility in maternal ...
Xiaojiao KONG   +3 more
doaj   +1 more source

Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas. [PDF]

open access: yesPLoS Biology, 2014
The identification of recurrent gene fusions in common epithelial cancers--for example, TMPRSS2/ERG in prostate cancer and EML4/ALK in nonsmall cell lung carcinomas--has raised the question of whether fusion genes are pathogenetically important also in ...
Francesca Micci   +5 more
doaj   +1 more source

Gene frequencies and polymorphism of the MNS blood group system in the Han population of voluntary blood donors in Suzhou

open access: yesZhongguo shuxue zazhi
[Objective] To investigate the antigen and gene frequency distribution of the MNS blood group system in the Han population of voluntary blood donors in Suzhou, and to explore the polymorphism of rare MNS blood group genes, in order to improve the ...
XU Zihao   +4 more
doaj   +1 more source

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