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Polimorfismo genético, terapia farmacológica e função cardíaca seqüencial em pacientes com insuficiência cardíaca
(Sociedade Brasileira de Cardiologia - SBC, 2008)
FUNDAMENTO: Variantes funcionais do gene da enzima conversora da angiotensina (ECA) podem estar associados com a resposta à terapia em portadores de insuficiência cardíaca (IC). OBJETIVO: Testar a hipótese de diferenças ...
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
(BioMed Central, 2018)
Abstract
Background
Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar ...
Detection of a Williams Beuren syndrome case by MLPA.
(Medicina (Buenos Aires), 2013-02)
El síndrome de Williams-Beuren (WBS) es un trastorno del desarrollo neurológico que incluye diferentes manifestaciones clínicas como estenosis aórtica supravalvular, lesiones cerebrovasculares, retraso en el crecimiento, ...
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
(Elsevier B.V., 2015-05-01)
Objective: To map the X-chromosome and autosome breakpoints in women with balanced X-autosome translocations and primary amenorrhea, searching candidate genomic loci for female infertility.Design: Retrospective and ...
Low-frequency and rare variants may contribute to elucidate the genetics of major depressive disorder
(2018)
Major depressive disorder (MDD) is a common but serious psychiatric disorder with significant levels of morbidity and mortality. Recent genome-wide association studies (GWAS) on common variants increase our understanding ...
Epigenetic Modifications in the Biology of Nonalcoholic Fatty Liver Disease: The Role of DNA-Hydroxymethylation and TET Proteins
(Lippincott Williams, 2015-09)
The 5-Hydroxymethylcytosine (5-hmC) is an epigenetic modification whose role in the pathogenesis of metabolic-related complex diseases remains unexplored; 5-hmC appears to be prevalent in the mitochondrial genome. The ...
Polledness in Argentinean Creole cattle, five centuries surviving
(Wiley Blackwell Publishing, Inc, 2019-08)
Polledness has been shown to have autosomal Mendelian inheritance, with the polled locus being dominant to the horned locus. This trait was mapped to the BTA1 centromeric end in several breeds. One of the distinctive ...
Complex history of the amphibian-killing chytrid fungus revealed with genome resequencing data
(National Academy Of Sciences, 2013-06)
Understanding the evolutionary history of microbial pathogens is critical for mitigating the impacts of emerging infectious diseases on economically and ecologically important host species. We used a genome resequencing ...