Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1638
Título: Relevance of Common and Rare CNVs for Autism Etiology
Autor: C. Conceição, Inês
Correia, Catarina
Oliveira, Bárbara
Rama, Maria Margarida
Café, Cátia
Almeida, Joana
Mouga, Susana
Duque, Frederico
Oliveira, Guiomar
M. Vicente, Astrid
Palavras-chave: Perturbações do Desenvolvimento Infantil e Saúde Mental
Data: Mai-2013
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Recent reports by the Autism Genome Project (AGP) consortium and other groups show that Copy Number Variants (CNVs), while individually rare, collectively may explain a large fraction of the etiology of Autism Spectrum Disorders (ASD). The goal of this study was to establish the clinical and etiological relevance for ASD of potentially pathogenic CNVs identified in a Portuguese population sample by whole genome CNV analysis, through the detailed characterization of CNVs and correlation with clinical phenotypes. Analysis of the Autism Genome Project genome-wide CNV results using 1M SNP microarray1 identified a total of 14218 CNVs in 342 Portuguese probands. We selected 292 CNVs, present in 191 individuals (19 females and 172 males), using the following criteria: 1) CNVs that contained implicated/candidate genes for ASD; 2) CNVs in genomic regions known to be implicated/candidate for ASD; 3) CNVs containing genes associated with syndromes with ASD symptoms; and 4) high confidence CNVs that did not overlap more than 20% with controls in available databases. We explored recurrence rates, genic content, regulatory elements, inheritance patterns and clinical correlations
URI: http://hdl.handle.net/10400.18/1638
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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