{"id":38651,"date":"2019-09-18T13:59:59","date_gmt":"2019-09-18T17:59:59","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38651-2\/"},"modified":"2024-01-29T09:58:54","modified_gmt":"2024-01-29T14:58:54","slug":"38651-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38651-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>L&#8217;utilit\u00e9 du s\u00e9quen\u00e7age de l&#8217;exome entier dans la pratique clinique courante<\/strong><\/h2>\n<p>Article de recherche original de A. Iglesias et al. (2014).<strong> <\/strong><\/p>\n<p>Lire l&#8217;article <a href=\"https:\/\/www.nature.com\/articles\/gim201458\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, 115 personnes (principalement des enfants, mais aussi quelques adultes) ont \u00e9t\u00e9 \u00e9valu\u00e9es au Columbia University Medical Center et ont subi des tests utilisant le s\u00e9quen\u00e7age de l&#8217;exome entier pour identifier les causes de nombreux probl\u00e8mes de sant\u00e9 diff\u00e9rents (par exemple, malformations cong\u00e9nitales, retard de d\u00e9veloppement, crises d&#8217;\u00e9pilepsie, perte d&#8217;audition, diff\u00e9rences de comportement, probl\u00e8mes cardiaques). Un diagnostic a \u00e9t\u00e9 pos\u00e9 pour 37 personnes (32,2 %), dont un enfant pr\u00e9sentant des modifications du g\u00e8ne <em>ARID1B<\/em> non h\u00e9rit\u00e9es de l&#8217;un ou l&#8217;autre parent (de novo). On a d\u00e9couvert que cet enfant pr\u00e9sentait un retard de d\u00e9veloppement, une malformation cardiaque appel\u00e9e syndrome du c\u0153ur gauche hypoplastique et une formation incompl\u00e8te d&#8217;une partie du cerveau appel\u00e9e corps calleux.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>L&#8217;utilit\u00e9 du s\u00e9quen\u00e7age de l&#8217;exome entier dans la pratique clinique courante Article de recherche original de A. Iglesias et al. (2014). Lire l&#8217;article ici. Dans cette \u00e9tude, 115 personnes (principalement des enfants, mais aussi quelques adultes) ont \u00e9t\u00e9 \u00e9valu\u00e9es au Columbia University Medical Center et ont subi des tests utilisant le s\u00e9quen\u00e7age de l&#8217;exome entier [&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\/38651"}],"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=38651"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38651\/revisions"}],"predecessor-version":[{"id":38656,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38651\/revisions\/38656"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38651"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}