{"id":39180,"date":"2019-09-24T14:39:31","date_gmt":"2019-09-24T18:39:31","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39180-2\/"},"modified":"2024-01-29T10:00:32","modified_gmt":"2024-01-29T15:00:32","slug":"39180-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/dst\/39180-2\/","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. L&#8217;\u00e9tude a permis d&#8217;identifier 350 \u00e0 400 nouveaux g\u00e8nes &#8220;candidats&#8221;, dont le DST, qui pourraient \u00eatre li\u00e9s \u00e0 des caract\u00e9ristiques de l&#8217;autisme. Une modification cens\u00e9e emp\u00eacher le g\u00e8ne de fonctionner correctement a \u00e9t\u00e9 trouv\u00e9e chez une personne qui ne l&#8217;avait h\u00e9rit\u00e9e d&#8217;aucun de ses parents (de novo).<\/p>\n<p>.<\/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. L&#8217;\u00e9tude a [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":76919,"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\/39180"}],"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=39180"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39180\/revisions"}],"predecessor-version":[{"id":39187,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39180\/revisions\/39187"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/76919"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39180"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}