{"id":41479,"date":"1999-01-01T00:00:00","date_gmt":"1999-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-en-familias-espanolas-afectadas-de-retinopatias-hereditarias-retinosis-pigmentaria-autosomica-dominante-distrofia-macular-autosomica-dominante-y-coroideremia\/"},"modified":"1999-01-01T00:00:00","modified_gmt":"1999-01-01T00:00:00","slug":"estudio-genetico-en-familias-espanolas-afectadas-de-retinopatias-hereditarias-retinosis-pigmentaria-autosomica-dominante-distrofia-macular-autosomica-dominante-y-coroideremia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-genetico-en-familias-espanolas-afectadas-de-retinopatias-hereditarias-retinosis-pigmentaria-autosomica-dominante-distrofia-macular-autosomica-dominante-y-coroideremia\/","title":{"rendered":"Estudio genetico en familias espa\u00f1olas afectadas de retinopatias hereditarias:  retinosis pigmentaria autosomica dominante, distrofia macular autosomica  dominante y coroideremia."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Trujillo Tiebas M. Jose <\/strong><\/h2>\n<p>Las enfermedades hereditarias oftalmol\u00f3gicas se caracterizan por presentar una elevada heterogeneidad gen\u00e9tica y cl\u00ednica tanto a nivel intra como interfamiliar. los pacientes que las sufren presentan una p\u00e9rdida de visi\u00f3n progresiva. En el presente trabajo se han analizado 61 familias espa\u00f1olas: 34 adrp; 8 addm; 12 xlrp; 7 chm: los objetivos fueron:  1. Realizar una selecci\u00f3n y clasificaci\u00f3n de las familas.  2. Realizar un estudio gen\u00e9tico directo (an\u00e1lisis de mutaciones y polimorfismos) en los genes rodopsina (rho), rds-periferina (rds), rom-1, coroideremia (chm) y recoverina (rec).  3. Realizar un estudio gen\u00e9tico indirecto en 3 familias adrp y 5 chm.  4. Establecer una correlaci\u00f3n genotipo-fenotipo.  5. Realizar un an\u00e1lisis inform\u00e1tico de las prote\u00ednas mutadas.  los resultados aportan datos para conocer la realidad cl\u00ednica y gen\u00e9tica de estas tres patolog\u00edas en la poblaci\u00f3n espa\u00f1ola.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio genetico en familias espa\u00f1olas afectadas de retinopatias hereditarias:  retinosis pigmentaria autosomica dominante, distrofia macular autosomica  dominante y coroideremia.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio genetico en familias espa\u00f1olas afectadas de retinopatias hereditarias:  retinosis pigmentaria autosomica dominante, distrofia macular autosomica  dominante y coroideremia. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Trujillo Tiebas M. Jose <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1999<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Mar\u00eda  Carmen Ayuso Garcia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Jos\u00e9 Gonz\u00e1lez aguilera <\/li>\n<li>Mar\u00eda  angeles Iba\u00f1ez  olias (vocal)<\/li>\n<li>montserrat Baiget bast\u00fas (vocal)<\/li>\n<li>c\u00e9sar Benito jim\u00e9nez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Trujillo Tiebas M. Jose Las enfermedades hereditarias oftalmol\u00f3gicas se caracterizan por presentar una elevada heterogeneidad gen\u00e9tica y [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[155,9,11771,988,347],"tags":[38128,14863,105060,61428,13786,105059],"class_list":["post-41479","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-medicas","category-genetica-clinica","category-oftalmologia","category-oncologia-clinica","tag-cesar-benito-jimenez","tag-juan-jose-gonzalez-aguilera","tag-maria-angeles-ibanez-olias","tag-maria-carmen-ayuso-garcia","tag-montserrat-baiget-bastus","tag-trujillo-tiebas-m-jose"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/41479","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=41479"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/41479\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=41479"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=41479"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=41479"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}