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Auteur Federica TASSONE |
Documents disponibles écrits par cet auteur (1)
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Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study / Flora TASSONE in Journal of Autism and Developmental Disorders, 43-3 (March 2013)
[article]
Titre : Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study Type de document : Texte imprimé et/ou numérique Auteurs : Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur Article en page(s) : p.530-539 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Developmental delay Fragile X Premutation Screening CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539[article] Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study [Texte imprimé et/ou numérique] / Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur . - p.530-539.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539
Mots-clés : Autism spectrum disorder Developmental delay Fragile X Premutation Screening CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192