{"id":56483,"date":"2024-10-29T12:29:37","date_gmt":"2024-10-29T16:29:37","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/29\/nouveaux-rapports-trimestriels-octobre-2024\/"},"modified":"2024-10-29T13:08:14","modified_gmt":"2024-10-29T17:08:14","slug":"nouveaux-rapports-trimestriels-octobre-2024","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/fr\/2024\/10\/29\/nouveaux-rapports-trimestriels-octobre-2024\/","title":{"rendered":"Nouveaux rapports trimestriels &#8211; octobre 2024"},"content":{"rendered":"<h4><strong>Nos rapports trimestriels d&#8217;octobre 2024 regorgent d&#8217;informations fra\u00eeches fournies par les participants \u00e0 <span class=\"notranslate\">Simons Searchlight<\/span> sur 63 communaut\u00e9s g\u00e9n\u00e9tiques (liste compl\u00e8te en bas de page) !<\/strong><\/h4>\n<p><span style=\"font-weight: 400;\">Il s&#8217;agit de 7 nouveaux groupes :<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">15q13.3 d\u00e9l\u00e9tion<\/span><\/li>\n<li><span style=\"font-weight: 400;\">ANK2<\/span><\/li>\n<li><span style=\"font-weight: 400;\">EHMT1<\/span><\/li>\n<li><span style=\"font-weight: 400;\">GRIN2A<\/span><\/li>\n<li><span style=\"font-weight: 400;\">KMT2C<\/span><\/li>\n<li><span style=\"font-weight: 400;\">NAA15<\/span><\/li>\n<li><span style=\"font-weight: 400;\">POGZ<\/span><\/li>\n<\/ul>\n<p><strong>Votre rapport trimestriel est publi\u00e9 sur votre page web <span class=\"notranslate\">Simons Searchlight<\/span> (trouvez la page web de votre g\u00e8ne) : <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/strong><\/p>\n<p>N&#8217;h\u00e9sitez pas \u00e0 partager cette ressource avec les prestataires de soins m\u00e9dicaux, les \u00e9ducateurs et les membres de la famille qui pourraient la trouver utile. <span style=\"font-weight: 400;\">N&#8217;oubliez pas de consulter votre<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">tableau de bord<\/span><\/a><span style=\"font-weight: 400;\"> r\u00e9guli\u00e8rement pour y trouver de nouvelles enqu\u00eates qui vous aideront \u00e0 partager vos connaissances avec <span class=\"notranslate\">Simons Searchlight<\/span>.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Comme toujours, nous remercions toutes les familles pour leur participation &#8211; nous ne pourrions pas le faire sans vous ! Un coup de chapeau particulier \u00e0 nos partenaires de la communaut\u00e9 de d\u00e9fense des patients pour leur soutien continu.   <\/span><\/p>\n<p><span style=\"text-decoration: underline;\">Liste compl\u00e8te des communaut\u00e9s g\u00e9n\u00e9tiques avec un nouveau rapport trimestriel :<\/span><\/p>\n<p>&#8211; 15q11.2 d\u00e9l\u00e9tion BP1-BP2<br \/>\n&#8211; 16p11.2 d\u00e9l\u00e9tion<br \/>\n&#8211; 16p11.2 duplication<br \/>\n&#8211; 16p13.11 d\u00e9l\u00e9tion<br \/>\n&#8211; d\u00e9l\u00e9tion 1q21.1<br \/>\n&#8211; Duplication du g\u00e8ne 1q21.1<br \/>\n&#8211; d\u00e9l\u00e9tion 2p16.3<br \/>\n&#8211; d\u00e9l\u00e9tion 5p<br \/>\n&#8211; Duplication du 7q11.23<br \/>\n&#8211; ADNP<br \/>\n&#8211; ANKRD11<br \/>\n&#8211; ARID1B<br \/>\n&#8211; ASXL3<br \/>\n&#8211; ATRX<br \/>\n&#8211; CHAMP1<br \/>\n&#8211; CHD2<br \/>\n&#8211; CHD8<br \/>\n&#8211; CLCN4<br \/>\n&#8211; CSNK2A1<br \/>\n&#8211; CSNK2B<br \/>\n&#8211; CTNNB1<br \/>\n&#8211; CUL3<br \/>\n&#8211; DEAF1<br \/>\n&#8211; D\u00e9l\u00e9tion distale 16p11.2<br \/>\n&#8211; Duplication distale de 16p11.2<br \/>\n&#8211; DLG4<br \/>\n&#8211; DYNC1H1<br \/>\n&#8211; DYRK1A<br \/>\n&#8211; FOXP1<br \/>\n&#8211; GRIN1<br \/>\n&#8211; GRIN2B<br \/>\n&#8211; HIVEP2<br \/>\n&#8211; HNRNPH2<br \/>\n&#8211; IRF2BPL<br \/>\n&#8211; KDM6B<br \/>\n&#8211; KdVS<br \/>\n&#8211; KMT2E<br \/>\n&#8211; MED13L<br \/>\n&#8211; MEF2C<br \/>\n&#8211; PACS1<br \/>\n&#8211; PPP2R1A<br \/>\n&#8211; PPP2R5D<br \/>\n&#8211; PPP3CA<br \/>\n&#8211; SCN2A<br \/>\n&#8211; SETBP1<br \/>\n&#8211; SETD5<br \/>\n&#8211; SLC6A1<br \/>\n&#8211; STXBP1<br \/>\n&#8211; SYNGAP1<br \/>\n&#8211; TANC2<br \/>\n&#8211; TBR1<br \/>\n&#8211; TLK2<br \/>\n&#8211; TRIO<br \/>\n&#8211; TRIP12<br \/>\n&#8211; WDFY3<br \/>\n&#8211; ZNF292<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Notre dernier rapport offre des perspectives actualis\u00e9es et des donn\u00e9es fra\u00eeches sur les participants \u00e0 Simons Searchlight !<\/p>\n","protected":false},"author":18,"featured_media":39626,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":""},"categories":[195],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/56483"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=56483"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/56483\/revisions"}],"predecessor-version":[{"id":56504,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/56483\/revisions\/56504"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media\/39626"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=56483"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/categories?post=56483"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/tags?post=56483"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}