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Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder / Paolo PRONTERA in Journal of Autism and Developmental Disorders, 44-10 (October 2014)
[article]
Titre : Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Paolo PRONTERA, Auteur ; Domenico SERINO, Auteur ; Bernardo CALDINI, Auteur ; Laura SCARPONI, Auteur ; Giuseppe MERLA, Auteur ; Giuseppe TESTA, Auteur ; Marco MUTI, Auteur ; Valerio NAPOLIONI, Auteur ; Giovanni MAZZOTTA, Auteur ; Massimo PICCIRILLI, Auteur ; Emilio DONTI, Auteur Article en page(s) : p.2608-2613 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders 7q11.23 Duplication Amygdala Williams–Beuren syndrome Limbic system Magnetic resonance Functional magnetic resonance Index. décimale : PER Périodiques Résumé : The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function. En ligne : http://dx.doi.org/10.1007/s10803-014-2117-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240
in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2608-2613[article] Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Paolo PRONTERA, Auteur ; Domenico SERINO, Auteur ; Bernardo CALDINI, Auteur ; Laura SCARPONI, Auteur ; Giuseppe MERLA, Auteur ; Giuseppe TESTA, Auteur ; Marco MUTI, Auteur ; Valerio NAPOLIONI, Auteur ; Giovanni MAZZOTTA, Auteur ; Massimo PICCIRILLI, Auteur ; Emilio DONTI, Auteur . - p.2608-2613.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2608-2613
Mots-clés : Autism spectrum disorders 7q11.23 Duplication Amygdala Williams–Beuren syndrome Limbic system Magnetic resonance Functional magnetic resonance Index. décimale : PER Périodiques Résumé : The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function. En ligne : http://dx.doi.org/10.1007/s10803-014-2117-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240 Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders / Patrick MALENFANT in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
[article]
Titre : Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.1459-1469 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders (ASDs) Gene association GTF2i gene 7q11.23 duplication Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469[article] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.1459-1469.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469
Mots-clés : Autism Spectrum Disorders (ASDs) Gene association GTF2i gene 7q11.23 duplication Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166