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Contribution of chromosomal abnormalities at 10q and 22q to autism / Nagwa A. MEGUID in Research in Autism Spectrum Disorders, 50 (June 2018)
[article]
Titre : Contribution of chromosomal abnormalities at 10q and 22q to autism Type de document : Texte imprimé et/ou numérique Auteurs : Nagwa A. MEGUID, Auteur ; Maha M. EID, Auteur ; Amal M. MOHAMED, Auteur ; Heba GHANOUM, Auteur ; Nivine A. HELMY, Auteur ; Ola M. EID, Auteur Année de publication : 2018 Article en page(s) : p.43-50 Langues : Anglais (eng) Mots-clés : Autism Chromosomal abnormalities Chromosome 10q Chromosome 22q Index. décimale : PER Périodiques Résumé : Autism’s etiology is heterogeneous. It derives generically from a complex of interactions between genetic, epigenetic and environmental factors. Chromosomal rearrangements at almost all chromosomes have been reported among individuals with autism spectrum disorders (ASD). In this report, we represent three autistic patients with chromosomal abnormalities at 10q and 22q with an interesting case of 10q duplication rather than deletion. This report explores the contribution of the affected genomic regions to ASD. It may contribute to the field of research categorizing candidate loci for ASD, which would be useful in genotype– phenotype analyses for ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.03.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=356
in Research in Autism Spectrum Disorders > 50 (June 2018) . - p.43-50[article] Contribution of chromosomal abnormalities at 10q and 22q to autism [Texte imprimé et/ou numérique] / Nagwa A. MEGUID, Auteur ; Maha M. EID, Auteur ; Amal M. MOHAMED, Auteur ; Heba GHANOUM, Auteur ; Nivine A. HELMY, Auteur ; Ola M. EID, Auteur . - 2018 . - p.43-50.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 50 (June 2018) . - p.43-50
Mots-clés : Autism Chromosomal abnormalities Chromosome 10q Chromosome 22q Index. décimale : PER Périodiques Résumé : Autism’s etiology is heterogeneous. It derives generically from a complex of interactions between genetic, epigenetic and environmental factors. Chromosomal rearrangements at almost all chromosomes have been reported among individuals with autism spectrum disorders (ASD). In this report, we represent three autistic patients with chromosomal abnormalities at 10q and 22q with an interesting case of 10q duplication rather than deletion. This report explores the contribution of the affected genomic regions to ASD. It may contribute to the field of research categorizing candidate loci for ASD, which would be useful in genotype– phenotype analyses for ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.03.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=356 Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort / Laura TIMONEN-SOIVIO in Journal of Autism and Developmental Disorders, 46-8 (August 2016)
[article]
Titre : Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Laura TIMONEN-SOIVIO, Auteur ; Raija VANHALA, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Andre SOURANDER, Auteur Article en page(s) : p.2780-2784 Langues : Anglais (eng) Mots-clés : Syndromic autism Chromosomal abnormalities Autism spectrum disorder Single gene disorders Index. décimale : PER Périodiques Résumé : We studied the association between specific congenital syndromes and autism spectrum disorders (ASD) in the large Finnish Register material. Our data include all children diagnosed with ASD (n = 4441) according to Finnish Hospital Discharge Register in 1987–2000. Four controls per each case were matched to sex, birthplace, date of birth (±30 days) and residence in Finland (n = 17,695). The prevalence of specific congenital syndromes in the Finnish Register of Congenital Malformations was evaluated among the ASD group and the controls by sex. The results of this study suggest that there is an association between several etiologically different syndromes and ASD when compared to controls without ASD. Statistically significant associations were observed with 47,XYY, Sotos syndrome, neurofibromatosis I, and syndrome not otherwise specified. Syndromes were more common among males with ASD compared to controls. These results support the previous studies of etiological heterogeneity of ASD and have importance in clinical examination, management and rehabilitation. En ligne : http://dx.doi.org/10.1007/s10803-016-2789-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2780-2784[article] Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort [Texte imprimé et/ou numérique] / Laura TIMONEN-SOIVIO, Auteur ; Raija VANHALA, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Andre SOURANDER, Auteur . - p.2780-2784.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2780-2784
Mots-clés : Syndromic autism Chromosomal abnormalities Autism spectrum disorder Single gene disorders Index. décimale : PER Périodiques Résumé : We studied the association between specific congenital syndromes and autism spectrum disorders (ASD) in the large Finnish Register material. Our data include all children diagnosed with ASD (n = 4441) according to Finnish Hospital Discharge Register in 1987–2000. Four controls per each case were matched to sex, birthplace, date of birth (±30 days) and residence in Finland (n = 17,695). The prevalence of specific congenital syndromes in the Finnish Register of Congenital Malformations was evaluated among the ASD group and the controls by sex. The results of this study suggest that there is an association between several etiologically different syndromes and ASD when compared to controls without ASD. Statistically significant associations were observed with 47,XYY, Sotos syndrome, neurofibromatosis I, and syndrome not otherwise specified. Syndromes were more common among males with ASD compared to controls. These results support the previous studies of etiological heterogeneity of ASD and have importance in clinical examination, management and rehabilitation. En ligne : http://dx.doi.org/10.1007/s10803-016-2789-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291