{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["29(8)"],"submitter":["Norling A"],"pubmed_abstract":["<h4>Study question</h4>Can high-resolution array comparative genomic hybridization (CGH) analysis of DNA samples from women with primary ovarian insufficiency (POI) improve the diagnosis of the condition and identify novel candidate genes for POI?<h4>Summary answer</h4>A mutation affecting the regulatory region of growth differentiation factor 9 (GDF9) was identified for the first time together with several novel candidate genes for POI.<h4>What is known already</h4>Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis.<h4>Study design, size, duration</h4>We performed a case-control study. Twenty-six patients were analyzed by array CGH for identification of copy number variants. Novel changes were investigated in 95 controls"],"journal":["Human reproduction (Oxford, England)"],"pagination":["1818-27"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4093997"],"repository":["biostudies-literature"],"pubmed_title":["Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform."],"pmcid":["PMC4093997"],"pubmed_authors":["Norling A","Wedell A","Hirschberg AL","Rodriguez-Wallberg KA","Barbaro M","Iwarsson E"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.","description":"<h4>Study question</h4>Can high-resolution array comparative genomic hybridization (CGH) analysis of DNA samples from women with primary ovarian insufficiency (POI) improve the diagnosis of the condition and identify novel candidate genes for POI?<h4>Summary answer</h4>A mutation affecting the regulatory region of growth differentiation factor 9 (GDF9) was identified for the first time together with several novel candidate genes for POI.<h4>What is known already</h4>Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis.<h4>Study design, size, duration</h4>We performed a case-control study. Twenty-six patients were analyzed by array CGH for identification of copy number variants. Novel changes were investigated in 95 controls","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Aug","modification":"2026-04-16T09:17:45.142Z","creation":"2019-03-27T01:31:54Z"},"accession":"S-EPMC4093997","cross_references":{"pubmed":["24939957"],"doi":["10.1093/humrep/deu149"]}}