{"id":{"repo_id":"rosario","oai_identifier":"oai:repository.urosario.edu.co:10336/11513"},"canonical_url":"https://search.dev.ndltd.org/etd/rosario/oai:repository.urosario.edu.co:10336/11513","repository":{"repo_id":"rosario","name":"Universidad del Rosario","base_url":"https://repository.urosario.edu.co/oai/request"},"display":{"title":"Búsqueda de mutaciones en el gen foxo4 en pacientes con falla ovárica prematura no-sindrómica","abstract":"FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.","abstract_html":"FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T &gt; G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.","abstract_has_math":false,"creators":["Garzón Venegas, Eliana del Pilar"],"institution":"Universidad del Rosario","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2015,"date_issued":"2015-07-31","date_published":"2015-07-31","updated_at":"2026-07-27T20:46:36Z","subjects":["Female infertility","FOXO4","Premature ovarian failure","Ginecología & otras especialidades médicas","Infertilidad Femenina","Insuficiencia ovárica primaria","Genética"],"languages":["spa"],"rights":["info:eu-repo/semantics/openAccess"],"rights_urls":["http://creativecommons.org/licenses/by-nc-nd/2.5/co/"],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["http://repository.urosario.edu.co/handle/10336/11513"],"render_values":[{"text":"http://repository.urosario.edu.co/handle/10336/11513","href":"http://repository.urosario.edu.co/handle/10336/11513","code":true}]}]},"links":{"outbound_url":"https://doi.org/10.48713/10336_11513","outbound_label":"DOI","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:creator","label":"Author","values":["Garzón Venegas, Eliana del Pilar"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2015-07-31","2015-11-13T21:02:23Z"]},{"key":"dc:publisher","label":"Institution","values":["Universidad del Rosario","Facultad de medicina","Maestría en Ciencias con Énfasis en Genética Humana"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/masterThesis","info:eu-repo/semantics/acceptedVersion"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Female infertility","FOXO4","Premature ovarian failure","Ginecología & otras especialidades médicas","Infertilidad Femenina","Insuficiencia ovárica primaria","Genética"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["spa"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess","http://creativecommons.org/licenses/by-nc-nd/2.5/co/"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://doi.org/10.48713/10336_11513","http://repository.urosario.edu.co/handle/10336/11513"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups."]},{"key":"dc:format","label":"Dc Format","values":["application/pdf"]},{"key":"dc:source","label":"Dc Source","values":["Alvarez, J. 2002. Diagnóstico genético reinplantación (PGD) y selección de sexo. Gac. MédMex. 138: 0016-3813.","instname:Universidad del Rosario","reponame:Repositorio Institucional EdocUR"]},{"key":"dc:title","label":"Title","values":["Búsqueda de mutaciones en el gen foxo4 en pacientes con falla ovárica prematura no-sindrómica"]}]}],"canonical_facts":{"dc:creator":["Garzón Venegas, Eliana del Pilar"],"dc:date":["2015-07-31","2015-11-13T21:02:23Z"],"dc:description":["FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups."],"dc:format":["application/pdf"],"dc:identifier":["https://doi.org/10.48713/10336_11513","http://repository.urosario.edu.co/handle/10336/11513"],"dc:language":["spa"],"dc:publisher":["Universidad del Rosario","Facultad de medicina","Maestría en Ciencias con Énfasis en Genética Humana"],"dc:rights":["info:eu-repo/semantics/openAccess","http://creativecommons.org/licenses/by-nc-nd/2.5/co/"],"dc:source":["Alvarez, J. 2002. Diagnóstico genético reinplantación (PGD) y selección de sexo. Gac. 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