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Détail de l'auteur
Auteur J. HALLMAYER |
Documents disponibles écrits par cet auteur (2)
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Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome / S. S. HALL in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
[article]
Titre : Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur Article en page(s) : p.16-27 Langues : Anglais (eng) Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27[article] Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur . - p.16-27.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27
Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism / V. J. VIELAND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)
[article]
Titre : Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism Type de document : Texte imprimé et/ou numérique Auteurs : V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur Article en page(s) : p.113-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343
in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23[article] Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism [Texte imprimé et/ou numérique] / V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur . - p.113-23.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23
Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343