{"id":38662,"date":"2019-09-18T14:02:38","date_gmt":"2019-09-18T18:02:38","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38662-2\/"},"modified":"2024-01-29T09:58:54","modified_gmt":"2024-01-29T14:58:54","slug":"38662-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38662-2\/","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=\"https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1306555\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, le 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. Environ 25 % de ces enfants, dont deux enfants pr\u00e9sentant des modifications de l&#8217;<em>ARID1B<\/em>, se sont r\u00e9v\u00e9l\u00e9s pr\u00e9senter une modification g\u00e9n\u00e9tique expliquant leur diagnostic. Les caract\u00e9ristiques physiques, comportementales et intellectuelles de ces enfants n&#8217;ont pas \u00e9t\u00e9 d\u00e9crites.<\/p>\n<p>Sept personnes, y compris les deux personnes pr\u00e9sentant des modifications de l&#8217;<em>ARID1B<\/em>,<em> <\/em>n&#8217;auraient pas re\u00e7u de diagnostic si cette \u00e9tude avait \u00e9t\u00e9 men\u00e9e avant 2012, date \u00e0 laquelle de nouveaux rapports de recherche sont devenus disponibles.<\/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, le 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. [&hellip;]<\/p>\n","protected":false},"author":6,"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\/38662"}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38662"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38662\/revisions"}],"predecessor-version":[{"id":38668,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38662\/revisions\/38668"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38662"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}