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 Ravinesh A. KUMAR |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
Copy number and sequence variants implicate APBA2 as an autism candidate gene / Timothy D. BABATZ in Autism Research, 2-6 (December 2009)
[article]
Titre : Copy number and sequence variants implicate APBA2 as an autism candidate gene Type de document : Texte imprimé et/ou numérique Auteurs : Timothy D. BABATZ, Auteur ; Ravinesh A. KUMAR, Auteur ; Jyotsna SUDI, Auteur ; William B. DOBYNS, Auteur ; Susan L. CHRISTIAN, Auteur Année de publication : 2009 Article en page(s) : p.359-364 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located within the 15q13.1 duplication and encodes a neuronal adaptor protein essential to synaptic transmission that interacts directly with NRXN1 at the presynaptic membrane. We interpreted this as evidence for a putative role of APBA2 in autism as larger maternal duplications of 15q11-q13 are the most common known cause of autism. We therefore resequenced 512 subjects with autism spectrum disorder (ASD) and 463 controls, and identified 7 novel nonsynonymous coding variants in ASD subjects compared with 4 in controls. Five of the seven variants in the ASD group were predicted to affect protein function, alter residues conserved across 18 species, or both. All of the variants for which parental DNA was available were inherited. We also found two different nonsynonymous variants in two siblings with autism: (1) a paternally inherited heterozygous 6 bp deletion and (2) a maternally inherited heterozygous missense mutation, the latter also found in a single control. These results indicate compound heterozygous mutations of APBA2 in this autism sibship. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD. En ligne : http://dx.doi.org/10.1002/aur.107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968
in Autism Research > 2-6 (December 2009) . - p.359-364[article] Copy number and sequence variants implicate APBA2 as an autism candidate gene [Texte imprimé et/ou numérique] / Timothy D. BABATZ, Auteur ; Ravinesh A. KUMAR, Auteur ; Jyotsna SUDI, Auteur ; William B. DOBYNS, Auteur ; Susan L. CHRISTIAN, Auteur . - 2009 . - p.359-364.
Langues : Anglais (eng)
in Autism Research > 2-6 (December 2009) . - p.359-364
Index. décimale : PER Périodiques Résumé : We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located within the 15q13.1 duplication and encodes a neuronal adaptor protein essential to synaptic transmission that interacts directly with NRXN1 at the presynaptic membrane. We interpreted this as evidence for a putative role of APBA2 in autism as larger maternal duplications of 15q11-q13 are the most common known cause of autism. We therefore resequenced 512 subjects with autism spectrum disorder (ASD) and 463 controls, and identified 7 novel nonsynonymous coding variants in ASD subjects compared with 4 in controls. Five of the seven variants in the ASD group were predicted to affect protein function, alter residues conserved across 18 species, or both. All of the variants for which parental DNA was available were inherited. We also found two different nonsynonymous variants in two siblings with autism: (1) a paternally inherited heterozygous 6 bp deletion and (2) a maternally inherited heterozygous missense mutation, the latter also found in a single control. These results indicate compound heterozygous mutations of APBA2 in this autism sibship. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD. En ligne : http://dx.doi.org/10.1002/aur.107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968 Parents' Judgements About Young Children's Problems: Why Mothers and Fathers Might Disagree Yet Still Predict Later Outcomes / Dale F. HAY in Journal of Child Psychology and Psychiatry, 40-8 (November 1999)
[article]
Titre : Parents' Judgements About Young Children's Problems: Why Mothers and Fathers Might Disagree Yet Still Predict Later Outcomes Type de document : Texte imprimé et/ou numérique Auteurs : Dale F. HAY, Auteur ; Susan PAWLBY, Auteur ; Deborah SHARP, Auteur ; Gesine SCHMÜCKER, Auteur ; Alice MILLS, Auteur ; Helen ALLEN, Auteur ; Ravinesh A. KUMAR, Auteur Année de publication : 1999 Article en page(s) : p.1249-1258 Langues : Anglais (eng) Mots-clés : Behaviour problems conformity fathers informant disagreement Index. décimale : PER Périodiques Résumé : Correlates of parents' ratings of behavioural problems were explored in a sample of 93 British families, in which mothers and fathers rated their children at the time of the fourth birthday on the Achenbach Child Behavior Checklist. As in other samples, there was moderate convergence in mothers' and fathers' total problem scores, but also signs that they were reporting different sorts of problems linked to different influences. The father's rating was primarily associated with the child's cognitive ability. The mother's rating was primarily affected by her own mental state and view of her marriage. The father's but not the mother's rating provided unique information that predicted teachers' reports of the children's problems 7 years later. In general, parents' ratings of preschool children's problems reflect particular informants' perspectives on family life. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125
in Journal of Child Psychology and Psychiatry > 40-8 (November 1999) . - p.1249-1258[article] Parents' Judgements About Young Children's Problems: Why Mothers and Fathers Might Disagree Yet Still Predict Later Outcomes [Texte imprimé et/ou numérique] / Dale F. HAY, Auteur ; Susan PAWLBY, Auteur ; Deborah SHARP, Auteur ; Gesine SCHMÜCKER, Auteur ; Alice MILLS, Auteur ; Helen ALLEN, Auteur ; Ravinesh A. KUMAR, Auteur . - 1999 . - p.1249-1258.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 40-8 (November 1999) . - p.1249-1258
Mots-clés : Behaviour problems conformity fathers informant disagreement Index. décimale : PER Périodiques Résumé : Correlates of parents' ratings of behavioural problems were explored in a sample of 93 British families, in which mothers and fathers rated their children at the time of the fourth birthday on the Achenbach Child Behavior Checklist. As in other samples, there was moderate convergence in mothers' and fathers' total problem scores, but also signs that they were reporting different sorts of problems linked to different influences. The father's rating was primarily associated with the child's cognitive ability. The mother's rating was primarily affected by her own mental state and view of her marriage. The father's but not the mother's rating provided unique information that predicted teachers' reports of the children's problems 7 years later. In general, parents' ratings of preschool children's problems reflect particular informants' perspectives on family life. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125