{"id":63680,"date":"2018-03-09T22:51:36","date_gmt":"2018-03-09T22:51:36","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-de-variantes-genomicas-aplicacion-de-nuevas-tecnologa%c2%adas-al-estudio-del-retraso-mental\/"},"modified":"2018-03-09T22:51:36","modified_gmt":"2018-03-09T22:51:36","slug":"caracterizacion-de-variantes-genomicas-aplicacion-de-nuevas-tecnologa%c2%adas-al-estudio-del-retraso-mental","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/caracterizacion-de-variantes-genomicas-aplicacion-de-nuevas-tecnologa%c2%adas-al-estudio-del-retraso-mental\/","title":{"rendered":"Caracterizaci\u00f3n de variantes gen\u00f3micas. aplicaci\u00f3n de nuevas tecnolog\u00edas al estudio del retraso mental"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Irene Madrigal Bajo <\/strong><\/h2>\n<p>El estudio gen\u00e9tico del rm constituye uno de los campos m\u00e1s complejos de la gen\u00e9tica humana; el avance en la identificaci\u00f3n y caracterizaci\u00f3n de los factores gen\u00e9ticos responsables de rm se ve limitado por la heterogeneidad tanto cl\u00ednica como molecular de esta patolog\u00eda. La aplicaci\u00f3n de nuevas tecnolog\u00edas como los arrays de cgh o el mlpa permiten la identificaci\u00f3n y caracterizaci\u00f3n de alteraciones cromos\u00f3micas desequilibradas que resultan en variaciones en n\u00famero de copia y que no son detectables con las t\u00e9cnicas de biolog\u00eda molecular convencional. Dado el gran n\u00famero de pacientes con rm que a\u00fan se desconoce su etiolog\u00eda, en este trabajo se ha realizado un estudio de reordenamientos cr\u00edpticos del cromosoma x mediante mlpa y un acgh del cromosoma x construido y dise\u00f1ado para este prop\u00f3sito. La aplicaci\u00f3n de estas tecnolog\u00edas en pacientes con xlmr ha permitido detectar nuevos reordenamientos responsables de rm y caracterizar alteraciones cromos\u00f3micas conocidas, lo cual supone una mejora significativa del diagn\u00f3stico gen\u00e9tico en estos pacientes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n de variantes gen\u00f3micas. aplicaci\u00f3n de nuevas tecnolog\u00edas al estudio del retraso mental<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n de variantes gen\u00f3micas. aplicaci\u00f3n de nuevas tecnolog\u00edas al estudio del retraso mental <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Irene Madrigal Bajo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 28\/03\/2008<\/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>Montserrat Mil\u00e1 Recasens<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rosa Miro ametller <\/li>\n<li>victoria Campuzano uceda (vocal)<\/li>\n<li>Jes\u00fas Eiris pu\u00f1al (vocal)<\/li>\n<li>feliciano Jes\u00fas Ramos fuentes (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Irene Madrigal Bajo El estudio gen\u00e9tico del rm constituye uno de los campos m\u00e1s complejos de la [&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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