{"id":56487,"date":"2024-10-29T12:29:37","date_gmt":"2024-10-29T16:29:37","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/29\/nuevos-informes-trimestrales-octubre-de-2024\/"},"modified":"2024-10-29T13:08:12","modified_gmt":"2024-10-29T17:08:12","slug":"nuevos-informes-trimestrales-octubre-de-2024","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/es\/2024\/10\/29\/nuevos-informes-trimestrales-octubre-de-2024\/","title":{"rendered":"Nuevos informes trimestrales de datos &#8211; octubre de 2024"},"content":{"rendered":"<h4><strong>Nuestros informes trimestrales de octubre de 2024 est\u00e1n repletos de informaci\u00f3n fresca de los participantes en el proyecto <span class=\"notranslate\">Simons Searchlight<\/span> sobre 63 comunidades gen\u00e9ticas (la lista completa se encuentra al final).<\/strong><\/h4>\n<p><span style=\"font-weight: 400;\">Esto incluye 7 grupos nuevos:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Deleci\u00f3n 15q13.3<\/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>Tu informe trimestral se publica en tu p\u00e1gina web de <span class=\"notranslate\">Simons Searchlight<\/span> (busca tu p\u00e1gina web de genes): <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/strong><\/p>\n<p>No dudes en compartir este recurso con proveedores m\u00e9dicos, educadores y familiares que puedan encontrarlo \u00fatil. <span style=\"font-weight: 400;\">No olvides consultar tu<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">tablero de mandos<\/span><\/a><span style=\"font-weight: 400;\"> regularmente para ver si hay nuevas encuestas que te ayuden a compartir tus conocimientos con <span class=\"notranslate\">Simons Searchlight<\/span>.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Como siempre, gracias a todas las familias por vuestra participaci\u00f3n: \u00a1no podr\u00edamos hacerlo sin vosotros! Un agradecimiento especial a nuestros socios de la comunidad de defensa del paciente por su continuo apoyo.   <\/span><\/p>\n<p><span style=\"text-decoration: underline;\">Lista completa de comunidades gen\u00e9ticas con un nuevo informe trimestral:<\/span><\/p>\n<p>&#8211; Deleci\u00f3n 15q11.2 BP1-BP2<br \/>\n&#8211; Deleci\u00f3n 16p11.2<br \/>\n&#8211; Duplicaci\u00f3n 16p11.2<br \/>\n&#8211; Deleci\u00f3n 16p13.11<br \/>\n&#8211; Deleci\u00f3n 1q21.1<br \/>\n&#8211; Duplicaci\u00f3n 1q21.1<br \/>\n&#8211; Deleci\u00f3n 2p16.3<br \/>\n&#8211; Supresi\u00f3n 5p<br \/>\n&#8211; Duplicaci\u00f3n 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; Deleci\u00f3n distal 16p11.2<br \/>\n&#8211; Duplicaci\u00f3n distal 16p11.2<br \/>\n&#8211; DLG4<br \/>\n&#8211; DINC1H1<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; VIAJE12<br \/>\n&#8211; WDFY3<br \/>\n&#8211; ZNF292<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Nuestro \u00faltimo informe ofrece informaci\u00f3n actualizada y nuevos datos sobre los participantes en Simons Searchlight.<\/p>\n","protected":false},"author":18,"featured_media":17393,"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":[103],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts\/56487"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/comments?post=56487"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts\/56487\/revisions"}],"predecessor-version":[{"id":56502,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts\/56487\/revisions\/56502"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media\/17393"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media?parent=56487"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/categories?post=56487"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/tags?post=56487"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}