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	Provedor de dados Genet. Mol. Biol. (2) Autor E. Castilla,Eduardo (1) Passos-Bueno,Maria Rita (1) Schuler-Faccini,Lavinia (1) Vainzof,Mariz (1) Zatz,Mayana (1) Palavra-chave Genetic diseases (2) Brazil (1) Disease clustering (1) Genetic counseling (1) Neuromuscular disorders (1) Population registers (1) Rumors (1) Stem cells (1) Therapies (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2016 (1) 2014 (1) País Brazil (2) Idioma Inglês (1) Português (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Neuromuscular disorders: genes, genetic counseling and therapeutic trials Genet. Mol. Biol. Zatz,Mayana; Passos-Bueno,Maria Rita; Vainzof,Mariz. Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies... Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic diseases; Genetic counseling; Neuromuscular disorders; Stem cells; Therapies. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300339 From rumors to genetic isolates Genet. Mol. Biol. E. Castilla,Eduardo; Schuler-Faccini,Lavinia. Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009-2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of... Tipo: Info:eu-repo/semantics/article Palavras-chave: Rumors; Disease clustering; Genetic diseases; Population registers; Brazil. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200005 Registros recuperados: 2 Primeira ... 1 ... Última

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