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Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipofenotipo para la distrofia muscular de Duchenne y Becker.
(2013-11-30)
Introducción: La correlación genotipo-fenotipo se estableció mediante el análisis de
deleciones del gen de la distrofina en pacientes con distrofia muscular de Duchenne y
Becker (DMD/DMB).
Objetivos: Establecer la ...
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
(Wiley, 2021)
Background: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population.Methods: ...
Avaliação neuropsicológica em crianças com distrofia muscular deDuchenne, acompanhadas no ambulatório de doenças neuromusculares doHospital das Clínicas da Universidade Federal de Minas Gerais
(Universidade Federal de Minas GeraisUFMG, 2010-02-23)
Objective: to revise the literature on the neuropsychological evaluation and presence of ADHD in children and young adults with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and the correlation ...
Identificación de deleciones en portadoras de distrofia muscular de Duchenne
Objectives: identification of carrier women in families affected with Duchenne’s and Becker’s Muscular Dystrophy (DMD/DMB) by means of Haplotypes building and the determination of loss of heterocygocity. Introduction: ...
Carrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysis
Introduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. Objective: The aim of this ...
Análisis de deleciones en 15 exones situados dentro y fuera del hot spot mutacional del gen de la distrofina en pacientes con distrofia muscular de Duchenne
(Universidad del RosarioEscuela de Medicina y Ciencias de la Salud, 2010)
Introduction. Duchenne and Becker Muscular Dystrophies (DMD/DMB) are X-linked recessive diseases characterized by progressive muscle weakness and wasting, loss of motor skills and death after the second decade of life. ...
Detección de portadores de distrofia muscular de Duchenne en familias colombianas por análisis de microsatélites
Introduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis.Objective: The aim of this investigation ...
Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro
(2009-01-14)
Abstract
The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular ...
Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro
(2009-01-14)
Abstract
The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular ...
Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación*
(Universidad del RosarioEscuela de Medicina y Ciencias de la Salud, 2012)
Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers ...