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	Provedor de dados 42 (1) Autor BATISTA,JACQUELINE S. (1) FANTIN,CLEITON (1) FERREIRA,JORGE F.B. (1) Palavra-chave Autism spectrum disorders (1) Dynamic mutation (1) Fragile X syndrome (1) Molecular screening (1) Premutation (1) Trinucleotide repeats (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Ano 2019 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil 42 FERREIRA,JORGE F.B.; BATISTA,JACQUELINE S.; FANTIN,CLEITON. Abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this... Tipo: Info:eu-repo/semantics/article Palavras-chave: Autism spectrum disorders; Dynamic mutation; Fragile X syndrome; Molecular screening; Premutation; Trinucleotide repeats. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805 Registros recuperados: 1 Primeira ... 1 ... Última

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