Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 45-8 (August 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Titre : Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population Type de document : Texte imprimé et/ou numérique Auteurs : Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur Année de publication : 2015 Article en page(s) : p.2323-2328 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 [article] Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population [Texte imprimé et/ou numérique] / Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur . - 2015 . - p.2323-2328. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263

Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations / Ahmed B. IDRIS in Research in Autism Spectrum Disorders, 93 (May 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 93 (May 2022) . - 101944 Titre : Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations Type de document : Texte imprimé et/ou numérique Auteurs : Ahmed B. IDRIS, Auteur ; Watfa AL-MAMARI, Auteur ; Reem ABDULRAHIM, Auteur ; Abeer ALSAYEGH, Auteur Article en page(s) : 101944 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder (ASD) between demographically distinct populations; consanguineous and non-consanguineous. Here we discuss the effect of advanced paternal age as a risk factor acting as a proxy for potential underlying genetic mechanisms. On that account, this narrative postulates that disparity might possibly be explained in the context of the differences in genetic makeup and abundance of recessive mutations in the highly consanguineous populations. En ligne : https://doi.org/10.1016/j.rasd.2022.101944 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations [Texte imprimé et/ou numérique] / Ahmed B. IDRIS, Auteur ; Watfa AL-MAMARI, Auteur ; Reem ABDULRAHIM, Auteur ; Abeer ALSAYEGH, Auteur . - 101944. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 93 (May 2022) . - 101944 Index. décimale : PER Périodiques Résumé : This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder (ASD) between demographically distinct populations; consanguineous and non-consanguineous. Here we discuss the effect of advanced paternal age as a risk factor acting as a proxy for potential underlying genetic mechanisms. On that account, this narrative postulates that disparity might possibly be explained in the context of the differences in genetic makeup and abundance of recessive mutations in the highly consanguineous populations. En ligne : https://doi.org/10.1016/j.rasd.2022.101944 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

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