{"id":39234,"date":"2019-09-25T08:50:16","date_gmt":"2019-09-25T12:50:16","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39234-2\/"},"modified":"2024-01-29T10:00:35","modified_gmt":"2024-01-29T15:00:35","slug":"39234-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39234-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>S\u00e9quen\u00e7age clinique de l&#8217;exome entier pour le diagnostic des troubles mend\u00e9liens<\/strong><\/h2>\n<p>Article de recherche original de Y. Yang <em>et al.<\/em> (2013).<\/p>\n<p>Lire l&#8217;article <a href=\"http:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1306555\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, un test appel\u00e9 s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 utilis\u00e9 pour rechercher les causes g\u00e9n\u00e9tiques de retards de d\u00e9veloppement inexpliqu\u00e9s, de d\u00e9ficiences intellectuelles et de diff\u00e9rences neurologiques chez 250 enfants. Sur ces 250 enfants, environ 25 % ont \u00e9t\u00e9 identifi\u00e9s comme ayant un changement g\u00e9n\u00e9tique expliquant leur diagnostic, dont un enfant atteint de d\u00e9ficience intellectuelle et d&#8217;autisme qui avait un changement dans le g\u00e8ne <em>DYRK1A <\/em>qui n&#8217;avait \u00e9t\u00e9 h\u00e9rit\u00e9 d&#8217;aucun des parents (de novo).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>S\u00e9quen\u00e7age clinique de l&#8217;exome entier pour le diagnostic des troubles mend\u00e9liens Article de recherche original de Y. Yang et al. (2013). Lire l&#8217;article ici. Dans cette \u00e9tude, un test appel\u00e9 s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 utilis\u00e9 pour rechercher les causes g\u00e9n\u00e9tiques de retards de d\u00e9veloppement inexpliqu\u00e9s, de d\u00e9ficiences intellectuelles et de diff\u00e9rences neurologiques chez [&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\/39234"}],"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=39234"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39234\/revisions"}],"predecessor-version":[{"id":39237,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39234\/revisions\/39237"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39234"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}