{"id":39255,"date":"2019-10-14T15:43:43","date_gmt":"2019-10-14T19:43:43","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39255-2\/"},"modified":"2024-01-29T10:00:37","modified_gmt":"2024-01-29T15:00:37","slug":"39255-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39255-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>S\u00e9quen\u00e7age diagnostique de l&#8217;exome chez les personnes atteintes d&#8217;une d\u00e9ficience intellectuelle s\u00e9v\u00e8re<\/strong><\/h2>\n<p>Article de recherche original de J. de Ligt <em>et al.<\/em> (2012).<\/p>\n<p>Lire l&#8217;article <a href=\"https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1206524\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, 100 patients atteints de d\u00e9ficience intellectuelle s\u00e9v\u00e8re (et leurs parents non affect\u00e9s) ont subi un s\u00e9quen\u00e7age de l&#8217;exome pour tenter d&#8217;identifier une cause g\u00e9n\u00e9tique \u00e0 leur diagnostic. Une analyse compl\u00e9mentaire a \u00e9t\u00e9 r\u00e9alis\u00e9e pour cinq g\u00e8nes associ\u00e9s \u00e0 la d\u00e9ficience intellectuelle (DYNC1H1, GATAD2B, ASH11, KIFSC et CTNNB1) chez 765 patients suppl\u00e9mentaires atteints de d\u00e9ficience intellectuelle. Une personne a \u00e9t\u00e9 identifi\u00e9e comme pr\u00e9sentant un certain degr\u00e9 de d\u00e9ficience intellectuelle, des probl\u00e8mes de comportement, de l&#8217;\u00e9pilepsie, des troubles du sommeil, des comportements st\u00e9r\u00e9otyp\u00e9s (qui sont l&#8217;une des caract\u00e9ristiques de l&#8217;autisme).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>S\u00e9quen\u00e7age diagnostique de l&#8217;exome chez les personnes atteintes d&#8217;une d\u00e9ficience intellectuelle s\u00e9v\u00e8re Article de recherche original de J. de Ligt et al. (2012). Lire l&#8217;article ici. Dans cette \u00e9tude, 100 patients atteints de d\u00e9ficience intellectuelle s\u00e9v\u00e8re (et leurs parents non affect\u00e9s) ont subi un s\u00e9quen\u00e7age de l&#8217;exome pour tenter d&#8217;identifier une cause g\u00e9n\u00e9tique \u00e0 leur [&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\/39255"}],"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=39255"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39255\/revisions"}],"predecessor-version":[{"id":39258,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39255\/revisions\/39258"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39255"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}