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	Provedor de dados BJID (1) Genet. Mol. Biol. (1) Autor Gheno,Tailise Conte (2) Ascoli,Bruna Maria (1) Barth,Afonso Luis (1) Bock,Hugo (1) Godinho,Fernanda Marques de Souza (1) Machado,Alice Beatriz Mombach Pinheiro (1) Oliveira,Kátia Ruschel Pilger de (1) Saraiva-Pereira,Maria Luiza (1) de-Paris,Fernanda (1) Mais... Palavra-chave Culture (1) Gene conversion (1) Molecular analysis (1) Polymerase chain reaction (1) Pregnancy (1) SMA (1) SMN1 gene (1) Streptococcus agalactiae (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2012 (1) 2011 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR Genet. Mol. Biol. Godinho,Fernanda Marques de Souza; Bock,Hugo; Gheno,Tailise Conte; Saraiva-Pereira,Maria Luiza. Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic testing for SMA. In this work, we introduce a new approach based on TaqMan® real-time PCR for research and diagnostic settings. DNA samples from 100 individuals with clinical signs and symptoms suggestive of SMA were analyzed. Mutant DNA samples as well as controls were confirmed by DNA sequencing. We detected 58 SMA cases (58.0%) by showing deletion of SMN1 exon 7.... Tipo: Info:eu-repo/semantics/article Palavras-chave: SMA; SMN1 gene; Gene conversion; Molecular analysis. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600010 Group B Streptococcus detection: comparison of PCR assay and culture as a screening method for pregnant women BJID de-Paris,Fernanda; Machado,Alice Beatriz Mombach Pinheiro; Gheno,Tailise Conte; Ascoli,Bruna Maria; Oliveira,Kátia Ruschel Pilger de; Barth,Afonso Luis. Streptococcus agalactiae or group B Streptococcus (GBS) is one of the most important causal agents of serious neonatal infections. Numerous assays have been evaluated for GBS screening in order to validate a fast and efficient method. The aim of this study was to compare the culture technique (established as the gold standard) with the molecular method of polymerase chain reaction (PCR) with specific primers (atr gene). Two hundred and sixty-three samples were analyzed. Vaginal samples were collected, according to the Centers for Disease Control and Prevention (CDC) recommendations, from women over 35 weeks of pregnancy at Hospital de Clínicas de Porto Alegre (HCPA). Two different extraction methods were tested in all samples collected. PCR technique... Tipo: Info:eu-repo/semantics/article Palavras-chave: Streptococcus agalactiae; Polymerase chain reaction; Culture; Pregnancy. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702011000400004 Registros recuperados: 2 Primeira ... 1 ... Última

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