{"id":56486,"date":"2024-10-29T12:29:37","date_gmt":"2024-10-29T16:29:37","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/29\/novos-relatorios-trimestrais-outubro-de-2024\/"},"modified":"2024-10-29T13:08:16","modified_gmt":"2024-10-29T17:08:16","slug":"novos-relatorios-trimestrais-outubro-de-2024","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/pt-br\/2024\/10\/29\/novos-relatorios-trimestrais-outubro-de-2024\/","title":{"rendered":"Novos relat\u00f3rios de dados trimestrais &#8211; outubro de 2024"},"content":{"rendered":"<h4><strong>Nossos Relat\u00f3rios Trimestrais de outubro de 2024 est\u00e3o repletos de informa\u00e7\u00f5es novas dos participantes do <span class=\"notranslate\">Simons Searchlight<\/span> sobre 63 comunidades gen\u00e9ticas (lista completa na parte inferior)!<\/strong><\/h4>\n<p><span style=\"font-weight: 400;\">Isso inclui 7 novos grupos:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Dele\u00e7\u00e3o 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>Seu relat\u00f3rio trimestral \u00e9 publicado na p\u00e1gina da Web do <span class=\"notranslate\">Simons Searchlight<\/span> (localize a p\u00e1gina da Web do seu gene): <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/strong><\/p>\n<p>Sinta-se \u00e0 vontade para compartilhar este recurso com provedores m\u00e9dicos, educadores e familiares que possam consider\u00e1-lo \u00fatil. <span style=\"font-weight: 400;\">N\u00e3o se esque\u00e7a de verificar seu<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">painel de controle<\/span><\/a><span style=\"font-weight: 400;\"> regularmente para ver se h\u00e1 novas pesquisas para ajudar voc\u00ea a compartilhar seu conhecimento com a <span class=\"notranslate\">Simons Searchlight<\/span>.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Como sempre, obrigado a todas as fam\u00edlias por sua participa\u00e7\u00e3o &#8211; n\u00e3o poder\u00edamos fazer isso sem voc\u00eas! Um agradecimento especial aos nossos parceiros da comunidade de defesa dos pacientes por seu apoio cont\u00ednuo.   <\/span><\/p>\n<p><span style=\"text-decoration: underline;\">Lista completa de comunidades gen\u00e9ticas com um novo relat\u00f3rio trimestral:<\/span><\/p>\n<p>&#8211; 15q11.2 dele\u00e7\u00e3o de BP1-BP2<br \/>\n&#8211; Dele\u00e7\u00e3o 16p11.2<br \/>\n&#8211; Duplica\u00e7\u00e3o de 16p11.2<br \/>\n&#8211; Dele\u00e7\u00e3o 16p13.11<br \/>\n&#8211; Dele\u00e7\u00e3o 1q21.1<br \/>\n&#8211; Duplica\u00e7\u00e3o de 1q21.1<br \/>\n&#8211; Dele\u00e7\u00e3o 2p16.3<br \/>\n&#8211; Dele\u00e7\u00e3o de 5p<br \/>\n&#8211; Duplica\u00e7\u00e3o do 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; Dele\u00e7\u00e3o distal 16p11.2<br \/>\n&#8211; Duplica\u00e7\u00e3o distal 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>Nosso \u00faltimo relat\u00f3rio oferece insights atualizados e dados novos sobre os participantes do Simons Searchlight!<\/p>\n","protected":false},"author":18,"featured_media":44958,"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":[300],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/posts\/56486"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/comments?post=56486"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/posts\/56486\/revisions"}],"predecessor-version":[{"id":56507,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/posts\/56486\/revisions\/56507"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/media\/44958"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/media?parent=56486"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/categories?post=56486"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/pt-br\/wp-json\/wp\/v2\/tags?post=56486"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}