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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Genetic Causes of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur Année de publication : 2016 Importance : p.13-24 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders CNV Heritability SNV Synapse Twin studies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Genetic Causes of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur . - 2016 . - p.13-24.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism spectrum disorders CNV Heritability SNV Synapse Twin studies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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