{"id":38622,"date":"2019-09-27T08:00:11","date_gmt":"2019-09-27T12:00:11","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38622-2\/"},"modified":"2024-01-29T09:58:21","modified_gmt":"2024-01-29T14:58:21","slug":"38622-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38622-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Disruptions g\u00e9n\u00e9tiques de novo chez les enfants autistes<\/strong><\/h2>\n<p>Article de recherche original de E.M. Iossifov <em>et al.<\/em> (2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.nature.com\/articles\/mp2013127\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, 343 familles de la collection Simons Simplex de la Fondation Simons, dont au moins un enfant a \u00e9t\u00e9 diagnostiqu\u00e9 autiste, ont fait l&#8217;objet d&#8217;un s\u00e9quen\u00e7age de l&#8217;exome entier. Cette \u00e9tude a permis d&#8217;identifier 350 \u00e0 400 nouveaux g\u00e8nes candidats susceptibles d&#8217;\u00eatre li\u00e9s aux caract\u00e9ristiques de l&#8217;autisme, dont MED13L. Une modification cens\u00e9e emp\u00eacher le g\u00e8ne de fonctionner correctement a \u00e9t\u00e9 identifi\u00e9e chez une personne et n&#8217;a \u00e9t\u00e9 h\u00e9rit\u00e9e d&#8217;aucun des parents (de novo).<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Disruptions g\u00e9n\u00e9tiques de novo chez les enfants autistes Article de recherche original de E.M. Iossifov et al. (2012). Lire le r\u00e9sum\u00e9 ici. Dans cette \u00e9tude, 343 familles de la collection Simons Simplex de la Fondation Simons, dont au moins un enfant a \u00e9t\u00e9 diagnostiqu\u00e9 autiste, ont fait l&#8217;objet d&#8217;un s\u00e9quen\u00e7age de l&#8217;exome entier. Cette \u00e9tude [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38622"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38622"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38622\/revisions"}],"predecessor-version":[{"id":38627,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38622\/revisions\/38627"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38622"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}