{"id":2603,"date":"2020-08-28T12:19:27","date_gmt":"2020-08-28T16:19:27","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?page_id=2603"},"modified":"2020-08-28T12:19:27","modified_gmt":"2020-08-28T16:19:27","slug":"publicaciones-gabriela-repetto","status":"publish","type":"page","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/","title":{"rendered":"Publicaciones"},"content":{"rendered":"\n<ul class=\"wp-block-list\"><li>Guo T, Repetto GM, McDonald-McGinn D Chung J\u2026.Morrow BE, on behalf of the International 22q11.2 Consortium\/Brain and Behavior Consortium.&nbsp;&nbsp;<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Genome-wide+association+study+to+find+modifiers+for+tetralogy+of+Fallot+in+the+22q11.2+deletion+syndrome+identifies+variants+in+the+GPR98+locus+on+5q14.3\">Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3<\/a>. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161\/CIRCGENETICS.116.001690<\/li><li>Leon LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM.&nbsp;<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Genome-wide+association+study+to+find+modifiers+for+tetralogy+of+Fallot+in+the+22q11.2+deletion+syndrome+identifies+variants+in+the+GPR98+locus\">Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in Chilean patients with 22q11.2DS<\/a>. Scientific Reports (2017) ;7: 1795 DOI:10.1038\/s41598-017-01896-w<\/li><li>Eyheramendy S, Martinez FI, Manevy F, Vial C, Repetto GM.&nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Genetic+structure+characterization+of+Chileans+reflects+historical+immigration+patterns\">Genetic structure characterization of Chileans reflects historical immigration patterns<\/a>. Nature Communications 6, Article number: 6472 doi:10.1038\/ncomms7472<\/li><li>Cruces P, Diaz F, Puga A, Erranz B, Donoso A, Carvajal C, Wilhelm J, Repetto GM.&nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Angiotensin-converting+enzyme+insertion%2Fdeletion+polymorphism+is+associated+with+severe+hypoxemia+in+pediatric+ARDS\">Angiotensin-converting enzyme insertion\/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS<\/a>. Intensive Care Med. 2012 Jan;38(1):113-9.<\/li><li>Shamseldin H; Al-Shammari M; Alsheddi T; Salih M; Alkhaldi H; Kentab A; Repetto GM; Hashem M; &nbsp;Alkuraya F. &nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Genomic+Analysis+of+Mitochondrial+Diseases+in+a+Consanguineous+Population+Reveals+Novel+Disease+Genes\">Genomic Analysis of Mitochondrial Diseases in a Consanguineous Population Reveals Novel Disease Genes<\/a>. J Med Genet. 2012 Apr;49(4):234-41<\/li><li>Lay-Son G, Puga A, Astudillo P, Repetto GM;&nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Collaborative+Group+of+the+Chilean+National+Cystic+Fibrosis+Program.+Cystic+fibrosis+in+Chilean+patients%3A+Analysis+of+36+common+CFTR+gene+mutations\">Collaborative Group of the Chilean National Cystic Fibrosis Program. Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations<\/a>. J Cyst Fibros. 2011 Jan;10(1): 66-70<\/li><li>Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, &nbsp;Weese-Mayer DE.&nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Later-onset+Congenital+Central+Hypoventilation+Syndrome+Due+to+a+Heterozygous+24-Polyalanine+Repeat+Expansion+Mutation+in+the+PHOX2B+Gene\">Later-onset Congenital Central Hypoventilation Syndrome Due to a Heterozygous 24-Polyalanine Repeat Expansion Mutation in the PHOX2B Gene<\/a>. Acta Paediatrica 2009; &nbsp;98(1):192-5.<\/li><li>Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA.&nbsp;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15031030\">A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)<\/a>. Lancet 2004; 363(9412):852-9.<\/li><\/ul>\n\n\n\n<p>Listado completo de publicaciones en&nbsp;<a href=\"https:\/\/scholar.google.cl\/citations?user=DGr9pFsAAAAJ&amp;hl=en\">Google Scholar<\/a>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Guo T, Repetto GM, McDonald-McGinn D Chung J\u2026.Morrow BE, on behalf of the International 22q11.2 Consortium\/Brain and Behavior Consortium.&nbsp;&nbsp;Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161\/CIRCGENETICS.116.001690 Leon LE, Benavides F, Espinoza K, Vial C, Alvarez [&hellip;]<\/p>\n","protected":false},"author":42,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-2603","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"og:description\" content=\"Guo T, Repetto GM, McDonald-McGinn D Chung J\u2026.Morrow BE, on behalf of the International 22q11.2 Consortium\/Brain and Behavior Consortium.&nbsp;&nbsp;Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161\/CIRCGENETICS.116.001690 Leon LE, Benavides F, Espinoza K, Vial C, Alvarez [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/\" \/>\n<meta property=\"og:site_name\" content=\"Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta name=\"twitter:label1\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/\",\"name\":\"Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica\",\"isPartOf\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\"},\"datePublished\":\"2020-08-28T16:19:27+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Inicio\",\"item\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Publicaciones\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\",\"name\":\"Centro de Gen\u00e9tica y Gen\u00f3mica\",\"description\":\"\",\"inLanguage\":\"es\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/","og_locale":"es_ES","og_type":"article","og_title":"Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica","og_description":"Guo T, Repetto GM, McDonald-McGinn D Chung J\u2026.Morrow BE, on behalf of the International 22q11.2 Consortium\/Brain and Behavior Consortium.&nbsp;&nbsp;Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161\/CIRCGENETICS.116.001690 Leon LE, Benavides F, Espinoza K, Vial C, Alvarez [&hellip;]","og_url":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/","og_site_name":"Centro de Gen\u00e9tica y Gen\u00f3mica","twitter_misc":{"Tiempo de lectura":"2 minutos"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/","url":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/","name":"Publicaciones - Centro de Gen\u00e9tica y Gen\u00f3mica","isPartOf":{"@id":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website"},"datePublished":"2020-08-28T16:19:27+00:00","breadcrumb":{"@id":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/#breadcrumb"},"inLanguage":"es","potentialAction":[{"@type":"ReadAction","target":["https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/publicaciones-gabriela-repetto\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Inicio","item":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/"},{"@type":"ListItem","position":2,"name":"Publicaciones"}]},{"@type":"WebSite","@id":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website","url":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/","name":"Centro de Gen\u00e9tica y Gen\u00f3mica","description":"","inLanguage":"es"}]}},"_links":{"self":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/pages\/2603","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/users\/42"}],"replies":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/comments?post=2603"}],"version-history":[{"count":2,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/pages\/2603\/revisions"}],"predecessor-version":[{"id":2605,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/pages\/2603\/revisions\/2605"}],"wp:attachment":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/media?parent=2603"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}