Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Anne-Claude TABET |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder / Anne-Claude TABET in Molecular Autism, (March 2015)
[article]
Titre : Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Anne-Claude TABET, Auteur ; Alain VERLOES, Auteur ; Marion PILORGE, Auteur ; Elsa DELABY, Auteur ; Richard DELORME, Auteur ; Gudrun NYGREN, Auteur ; Françoise DEVILLARD, Auteur ; Marion GÉRARD, Auteur ; Sandrine PASSEMARD, Auteur ; Delphine HERON, Auteur ; Jean-Pierre SIFFROI, Auteur ; Aurelia JACQUETTE, Auteur ; Andrée DELAHAYE, Auteur ; Laurence PERRIN, Auteur ; Céline DUPONT, Auteur ; Azzedine ABOURA, Auteur ; Pierre BITOUN, Auteur ; Mary COLEMAN, Auteur ; Marion LEBOYER, Auteur ; Christopher GILLBERG, Auteur ; Brigitte BENZACKEN, Auteur ; Catalina BETANCUR, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment. En ligne : http://dx.doi.org/10.1186/s13229-015-0015-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277
in Molecular Autism > (March 2015) . - p.1-14[article] Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder [Texte imprimé et/ou numérique] / Anne-Claude TABET, Auteur ; Alain VERLOES, Auteur ; Marion PILORGE, Auteur ; Elsa DELABY, Auteur ; Richard DELORME, Auteur ; Gudrun NYGREN, Auteur ; Françoise DEVILLARD, Auteur ; Marion GÉRARD, Auteur ; Sandrine PASSEMARD, Auteur ; Delphine HERON, Auteur ; Jean-Pierre SIFFROI, Auteur ; Aurelia JACQUETTE, Auteur ; Andrée DELAHAYE, Auteur ; Laurence PERRIN, Auteur ; Céline DUPONT, Auteur ; Azzedine ABOURA, Auteur ; Pierre BITOUN, Auteur ; Mary COLEMAN, Auteur ; Marion LEBOYER, Auteur ; Christopher GILLBERG, Auteur ; Brigitte BENZACKEN, Auteur ; Catalina BETANCUR, Auteur . - p.1-14.
Langues : Anglais (eng)
in Molecular Autism > (March 2015) . - p.1-14
Index. décimale : PER Périodiques Résumé : Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment. En ligne : http://dx.doi.org/10.1186/s13229-015-0015-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene / Hélène POQUET in Autism - Open Access, 7-1 ([01/01/2017])
[article]
Titre : Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene Type de document : Texte imprimé et/ou numérique Auteurs : Hélène POQUET, Auteur ; Laurence FAIVRE, Auteur ; Salima EL CHEHADEH, Auteur ; Jenny MORTON, Auteur ; Dominic MCMULLAN, Auteur ; Susan HAMILTON, Auteur ; Himanshu GOEL, Auteur ; Bertrand ISIDOR, Auteur ; Cédric LE CAIGNEC, Auteur ; Joris ANDRIEUX, Auteur ; Bruno DELOBEL, Auteur ; Eva PIPIRAS, Auteur ; Anne-Claude TABET, Auteur ; Andrée DELAHAYE, Auteur ; Loic DEPONTUAL, Auteur ; Mathilde LEFEBVRE, Auteur ; Caroline JACQUOT, Auteur ; Alice MASUREL, Auteur ; Frédéric HUET, Auteur ; Jean-Michel PINOIT, Auteur ; Vincent MEILLE, Auteur ; Maud BENETTI, Auteur ; Eddy PONAVOY, Auteur ; Jean-Christophe CHAUVET-GELINIER, Auteur ; Benoit TROJAK, Auteur ; Bernard BONIN, Auteur ; Christine JUIF, Auteur ; Anne COLLINET DE LA SALLE, Auteur ; Christel THAUVIN-ROBINET, Auteur ; Nathalie LAGARDE, Auteur ; Céline HENRY, Auteur ; Nathalie MARLE, Auteur ; Patrick CALLIER, Auteur ; Anne-Laure MOSCA-BOIDRON, Auteur Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorders Array-CGH Copy number variation Intellectual disability Neurodevelopmental disorders DLGAP2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvement of rare copy number variations of varying expressivity and penetrance as risk factors in autism spectrum disorders/intellectual disability phenotypes has been highlighted in large series. TheDLGAP2 gene, whose glutamatergic postsynaptic density product may play a role in synaptogenesis and plasticity, has been identified as a novel candidate on the basis of 2 de novo duplications in sporadic non-syndromic autism spectrum disorders/intellectual disability males. It has also been suggested that increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia spectrum disorders. Based on these results and after fine phenotyping of another patient with a de novo duplication involving DLGAP2 and presenting with autism spectrum disorder intersecting early-onset schizophrenia spectrum disorder, we gathered an international series of 9 cases (6families) via international data sharing. Four sporadic males presented with autism spectrum disorders and one had other neurodevelopmental disorders. A family with 4 females displayed intellectual disability (2/4) and specific learning disorder (2/4). This study supports the hypothesis that rare copy number variations encompassing DLGAP2with incomplete penetrance and variable expressivity could predispose to a broad range of early-onset neurodevelopmental disorders trajectories including autism spectrum disorders/intellectual disability, highlighting the existence of common predisposing factors to these overlapping phenotypic spectrums. En ligne : https://dx.doi.org/10.4172/2165-7890.1000197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 7-1 [01/01/2017] . - 8 p.[article] Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene [Texte imprimé et/ou numérique] / Hélène POQUET, Auteur ; Laurence FAIVRE, Auteur ; Salima EL CHEHADEH, Auteur ; Jenny MORTON, Auteur ; Dominic MCMULLAN, Auteur ; Susan HAMILTON, Auteur ; Himanshu GOEL, Auteur ; Bertrand ISIDOR, Auteur ; Cédric LE CAIGNEC, Auteur ; Joris ANDRIEUX, Auteur ; Bruno DELOBEL, Auteur ; Eva PIPIRAS, Auteur ; Anne-Claude TABET, Auteur ; Andrée DELAHAYE, Auteur ; Loic DEPONTUAL, Auteur ; Mathilde LEFEBVRE, Auteur ; Caroline JACQUOT, Auteur ; Alice MASUREL, Auteur ; Frédéric HUET, Auteur ; Jean-Michel PINOIT, Auteur ; Vincent MEILLE, Auteur ; Maud BENETTI, Auteur ; Eddy PONAVOY, Auteur ; Jean-Christophe CHAUVET-GELINIER, Auteur ; Benoit TROJAK, Auteur ; Bernard BONIN, Auteur ; Christine JUIF, Auteur ; Anne COLLINET DE LA SALLE, Auteur ; Christel THAUVIN-ROBINET, Auteur ; Nathalie LAGARDE, Auteur ; Céline HENRY, Auteur ; Nathalie MARLE, Auteur ; Patrick CALLIER, Auteur ; Anne-Laure MOSCA-BOIDRON, Auteur . - 8 p.
Langues : Anglais (eng)
in Autism - Open Access > 7-1 [01/01/2017] . - 8 p.
Mots-clés : Autism spectrum disorders Array-CGH Copy number variation Intellectual disability Neurodevelopmental disorders DLGAP2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvement of rare copy number variations of varying expressivity and penetrance as risk factors in autism spectrum disorders/intellectual disability phenotypes has been highlighted in large series. TheDLGAP2 gene, whose glutamatergic postsynaptic density product may play a role in synaptogenesis and plasticity, has been identified as a novel candidate on the basis of 2 de novo duplications in sporadic non-syndromic autism spectrum disorders/intellectual disability males. It has also been suggested that increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia spectrum disorders. Based on these results and after fine phenotyping of another patient with a de novo duplication involving DLGAP2 and presenting with autism spectrum disorder intersecting early-onset schizophrenia spectrum disorder, we gathered an international series of 9 cases (6families) via international data sharing. Four sporadic males presented with autism spectrum disorders and one had other neurodevelopmental disorders. A family with 4 females displayed intellectual disability (2/4) and specific learning disorder (2/4). This study supports the hypothesis that rare copy number variations encompassing DLGAP2with incomplete penetrance and variable expressivity could predispose to a broad range of early-onset neurodevelopmental disorders trajectories including autism spectrum disorders/intellectual disability, highlighting the existence of common predisposing factors to these overlapping phenotypic spectrums. En ligne : https://dx.doi.org/10.4172/2165-7890.1000197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410