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Auteur INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC) |
Documents disponibles écrits par cet auteur (2)
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Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample / Jeremy R. PARR in Journal of Autism and Developmental Disorders, 41-3 (March 2011)
[article]
Titre : Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample Type de document : Texte imprimé et/ou numérique Auteurs : Jeremy R. PARR, Auteur ; Ann LE COUTEUR, Auteur ; Gillian BAIRD, Auteur ; Michael RUTTER, Auteur ; Andrew PICKLES, Auteur ; Eric FOMBONNE, Auteur ; Anthony J. BAILEY, Auteur ; INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC), Auteur Année de publication : 2011 Article en page(s) : p.332-340 Langues : Anglais (eng) Mots-clés : ASD Regression Genetics Language Development Concordance Index. décimale : PER Périodiques Résumé : The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself. En ligne : http://dx.doi.org/10.1007/s10803-010-1055-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118
in Journal of Autism and Developmental Disorders > 41-3 (March 2011) . - p.332-340[article] Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample [Texte imprimé et/ou numérique] / Jeremy R. PARR, Auteur ; Ann LE COUTEUR, Auteur ; Gillian BAIRD, Auteur ; Michael RUTTER, Auteur ; Andrew PICKLES, Auteur ; Eric FOMBONNE, Auteur ; Anthony J. BAILEY, Auteur ; INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC), Auteur . - 2011 . - p.332-340.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 41-3 (March 2011) . - p.332-340
Mots-clés : ASD Regression Genetics Language Development Concordance Index. décimale : PER Périodiques Résumé : The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself. En ligne : http://dx.doi.org/10.1007/s10803-010-1055-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry / Inês SOUSA in Molecular Autism, (March 2010)
[article]
Titre : Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry Type de document : Texte imprimé et/ou numérique Auteurs : Inês SOUSA, Auteur ; Fritz POUSTKA, Auteur ; INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC), Auteur ; Anthony P. MONACO, Auteur ; Sabine M. KLAUCK, Auteur ; Agatino BATTAGLIA, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Richard HOLT, Auteur ; Taane G. CLARK, Auteur ; Erik J. MULDER, Auteur ; Ruud B. MINDERAA, Auteur ; Anthony J. BAILEY, Auteur Année de publication : 2010 Article en page(s) : 14 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours. Several cell adhesion transmembrane leucine-rich repeat (LRR) proteins are highly expressed in the nervous system and are thought to be key regulators of its development. Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs.
Methods
In order to gain a better understanding of how the genetic variation within these four gene regions may influence susceptibility to ASDs, a family-based association study was undertaken in 661 families of European ancestry selected from four different ASD cohorts. In addition, a case-control study was undertaken across the four LRR genes, using logistic regression in probands with ASD of each population against 295 ECACC controls.
Results
Significant results were found for LRRN3 and LRRTM3 (P < 0.005), using both single locus and haplotype approaches. These results were further supported by a case-control analysis, which also highlighted additional SNPs in LRRTM3.
Conclusions
Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.En ligne : http://dx.doi.org/10.1186/2040-2392-1-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102
in Molecular Autism > (March 2010) . - 14 p.[article] Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry [Texte imprimé et/ou numérique] / Inês SOUSA, Auteur ; Fritz POUSTKA, Auteur ; INTERNATIONAL MOLECULAR GENETIC STUDY OF AUTISM CONSORTIUM (IMGSAC), Auteur ; Anthony P. MONACO, Auteur ; Sabine M. KLAUCK, Auteur ; Agatino BATTAGLIA, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Richard HOLT, Auteur ; Taane G. CLARK, Auteur ; Erik J. MULDER, Auteur ; Ruud B. MINDERAA, Auteur ; Anthony J. BAILEY, Auteur . - 2010 . - 14 p.
Langues : Anglais (eng)
in Molecular Autism > (March 2010) . - 14 p.
Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours. Several cell adhesion transmembrane leucine-rich repeat (LRR) proteins are highly expressed in the nervous system and are thought to be key regulators of its development. Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs.
Methods
In order to gain a better understanding of how the genetic variation within these four gene regions may influence susceptibility to ASDs, a family-based association study was undertaken in 661 families of European ancestry selected from four different ASD cohorts. In addition, a case-control study was undertaken across the four LRR genes, using logistic regression in probands with ASD of each population against 295 ECACC controls.
Results
Significant results were found for LRRN3 and LRRTM3 (P < 0.005), using both single locus and haplotype approaches. These results were further supported by a case-control analysis, which also highlighted additional SNPs in LRRTM3.
Conclusions
Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.En ligne : http://dx.doi.org/10.1186/2040-2392-1-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102