Dépouillements

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants / Anthony J. GRISWOLD in Molecular Autism, (July 2015)  

Public ISBD [article]  inMolecular Autism > (July 2015) . - p.1-11 Titre : Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants Type de document : Texte imprimé et/ou numérique Auteurs : Anthony J. GRISWOLD, Auteur ; Nicole D. DUEKER, Auteur ; Derek BOOVEN, Auteur ; Joseph A. RANTUS, Auteur ; James M. JAWORSKI, Auteur ; Susan H. SLIFER, Auteur ; Michael A. SCHMIDT, Auteur ; William HULME, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Michael L. CUCCARO, Auteur ; Eden R. MARTIN, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; John P. HUSSMAN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have revealed genes with recurrent de novo loss-of-function variants as strong risk factors, but there are relatively few recurrently affected genes while as many as 1000 genes are predicted to play a role. As such, it is critical to identify the remaining rare and low-frequency variants contributing to ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0034-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants [Texte imprimé et/ou numérique] / Anthony J. GRISWOLD, Auteur ; Nicole D. DUEKER, Auteur ; Derek BOOVEN, Auteur ; Joseph A. RANTUS, Auteur ; James M. JAWORSKI, Auteur ; Susan H. SLIFER, Auteur ; Michael A. SCHMIDT, Auteur ; William HULME, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Michael L. CUCCARO, Auteur ; Eden R. MARTIN, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; John P. HUSSMAN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (July 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have revealed genes with recurrent de novo loss-of-function variants as strong risk factors, but there are relatively few recurrently affected genes while as many as 1000 genes are predicted to play a role. As such, it is critical to identify the remaining rare and low-frequency variants contributing to ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0034-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Sex differences in cortical volume and gyrification in autism / Marie SCHAER in Molecular Autism, (July 2015)  

Public ISBD [article]  inMolecular Autism > (July 2015) . - p.1-14 Titre : Sex differences in cortical volume and gyrification in autism Type de document : Texte imprimé et/ou numérique Auteurs : Marie SCHAER, Auteur ; John KOCHALKA, Auteur ; Aarthi PADMANABHAN, Auteur ; Kaustubh SUPEKAR, Auteur ; Vinod MENON, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Male predominance is a prominent feature of autism spectrum disorders (ASD), with a reported male to female ratio of 4:1. Because of the overwhelming focus on males, little is known about the neuroanatomical basis of sex differences in ASD. Investigations of sex differences with adequate sample sizes are critical for improving our understanding of the biological mechanisms underlying ASD in females. En ligne : http://dx.doi.org/10.1186/s13229-015-0035-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Sex differences in cortical volume and gyrification in autism [Texte imprimé et/ou numérique] / Marie SCHAER, Auteur ; John KOCHALKA, Auteur ; Aarthi PADMANABHAN, Auteur ; Kaustubh SUPEKAR, Auteur ; Vinod MENON, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (July 2015) . - p.1-14 Index. décimale : PER Périodiques Résumé : Male predominance is a prominent feature of autism spectrum disorders (ASD), with a reported male to female ratio of 4:1. Because of the overwhelming focus on males, little is known about the neuroanatomical basis of sex differences in ASD. Investigations of sex differences with adequate sample sizes are critical for improving our understanding of the biological mechanisms underlying ASD in females. En ligne : http://dx.doi.org/10.1186/s13229-015-0035-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence / Mark J. TAYLOR in Molecular Autism, (July 2015)  

Public ISBD [article]  inMolecular Autism > (July 2015) . - p.1-11 Titre : A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence Type de document : Texte imprimé et/ou numérique Auteurs : Mark J. TAYLOR, Auteur ; Elise B. ROBINSON, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur ; Daniel FREEMAN, Auteur ; Angelica RONALD, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This twin study investigated whether autistic traits during childhood were associated with adolescent psychotic experiences. En ligne : http://dx.doi.org/10.1186/s13229-015-0037-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence [Texte imprimé et/ou numérique] / Mark J. TAYLOR, Auteur ; Elise B. ROBINSON, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur ; Daniel FREEMAN, Auteur ; Angelica RONALD, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (July 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : This twin study investigated whether autistic traits during childhood were associated with adolescent psychotic experiences. En ligne : http://dx.doi.org/10.1186/s13229-015-0037-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277