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Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
(BioMed Central, 2017)
Abstract
Objectives
The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this ...
The functional specialization of exomer as a cargo adaptor during the evolution of fungi
(Genetics Society of America, 2018-04)
Yeast exomer is a heterotetrameric complex that is assembled at the trans-Golgi network, which is required for the delivery of a distinct set of proteins to the plasma membrane using ChAPs (Chs5-Arf1 binding proteins) Chs6 ...
A latent genetic subtype of major depression identified by whole-exome genotyping data in a Mexican-American cohort
(2017)
Identifying data-driven subtypes of major depressive disorder (MDD) is an important topic of psychiatric research. Currently, MDD subtypes are based on clinically defined depression symptom patterns. Although a few data-driven ...
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
(2022)
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and ...
Timely diagnosis of Wilson's disease using whole exome sequencing
(Elsevier, 2015-11)
Wilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis ...
Exome sequencing of native populations from the Amazon reveals patterns on the peopling of South America
(Frontiers Media SA, 2020-10-29)
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families
(Public Library of Science (PLoS), 2022-01-27)
Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing
(Universidade Federal de Minas GeraisUFMG, 2014-01-10)
renal tubular acidosis (RTA) or distal ATR type 1 comprises a heterogeneous group of disorders arising from dysfunction of the distal tubules, which can lead to a growth deficit, nephrocalcinosis, rickets and rarely chronic ...
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Mapping causal mutations by exome sequencing in a wheat TILLING population: a tall mutant case study
(Springer Heidelberg, 2018-04)
Forward genetic screens of induced mutant plant populations are powerful tools to identify genes underlying phenotypes of interest. Using traditional techniques, mapping causative mutations from forward screens is a lengthy, ...