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Auteur E. NAPOLI |
Documents disponibles écrits par cet auteur (1)
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Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders / E. NAPOLI in Journal of Autism and Developmental Disorders, 48-2 (February 2018)
[article]
Titre : Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : E. NAPOLI, Auteur ; S. RUSSO, Auteur ; Laura CASULA, Auteur ; V. ALESI, Auteur ; F. A. AMENDOLA, Auteur ; A. ANGIONI, Auteur ; A. NOVELLI, Auteur ; G. VALERI, Auteur ; D. MENGHINI, Auteur ; S. VICARI, Auteur Article en page(s) : p.442-449 Langues : Anglais (eng) Mots-clés : Asd CNVs Children Clinical phenotype Cognitive development Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337
in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449[article] Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders [Texte imprimé et/ou numérique] / E. NAPOLI, Auteur ; S. RUSSO, Auteur ; Laura CASULA, Auteur ; V. ALESI, Auteur ; F. A. AMENDOLA, Auteur ; A. ANGIONI, Auteur ; A. NOVELLI, Auteur ; G. VALERI, Auteur ; D. MENGHINI, Auteur ; S. VICARI, Auteur . - p.442-449.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449
Mots-clés : Asd CNVs Children Clinical phenotype Cognitive development Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337