[article] 
inJournal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539

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

[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