{"id":133200,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-clinico-genetico-y-molecular-de-la-poliquistosis-renal-autosomica-dominante\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"analisis-clinico-genetico-y-molecular-de-la-poliquistosis-renal-autosomica-dominante","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/analisis-clinico-genetico-y-molecular-de-la-poliquistosis-renal-autosomica-dominante\/","title":{"rendered":"Analisis clinico, genetico y molecular de la poliquistosis renal autosomica dominante."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Roser Torra Balcells <\/strong><\/h2>\n<p>El principal objetivo del presente trabajo ha sido profundizar en el conocimiento clinico y sobre todo de la patolog\u00eda molecular de la poliquistosis renal autosomica dominante. En este sentido se han realizado estudios clinicos y estudios moleculares, basicamente analisis de ligamiento y estudio de mutaciones en el gen pkd1. Los aspectos clinicos estudiados han sido: la variabilidad inter e intra familiar, siendo la ultima la mitad que la primera, las caracteristicas de los pacientes poliquisticos en tratamiento renal sustitutivo, la preValencia de quistes de pancreas (9% en los poliquistico demas de 30 a\u00f1os) y la preValencia de aneurismas de aorta en esta poblacion que no ha sido superior a la poblacion control. A nivel molecular se ha realizado el analisis de ligamento mostrando un 85% de las familias ligadas a pkd1 y un 15% a pkd2 y demostrando que pkd1 es mas severo que pkd2. El el analisis de mutaciones en el gen pkd1 ha dado como resultado el hallazgo de 5 mutaciones, 10 polimorfismos y 9 mutaciones o polimorfismos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis clinico, genetico y molecular de la poliquistosis renal autosomica dominante.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis clinico, genetico y molecular de la poliquistosis renal autosomica dominante. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Roser Torra Balcells <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/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>Alejandro Darnell Tey<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Cirilo Rozman Borsmar <\/li>\n<li>Jos\u00e9 Luis San Millan Lopez (vocal)<\/li>\n<li>Montserrat Mil\u00e1 Recasens (vocal)<\/li>\n<li>Jaime Aubia Marimon (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Roser Torra Balcells El principal objetivo del presente trabajo ha sido profundizar en el conocimiento clinico 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 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