Publication:
Submicroscopic duplication of 8q24.3 region is a potential candidate for disorders of sex development

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dc.contributor.coauthorDilek F.N.
dc.contributor.coauthorPerçin E.F.
dc.contributor.coauthorErgün M.A.
dc.contributor.coauthorSaka N.
dc.contributor.departmentN/A
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid7945
dc.date.accessioned2024-11-09T23:18:48Z
dc.date.issued2016
dc.description.abstractSome of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete gonadal dysgenesis primarily affect the gonads. Genetic alterations in ten unrelated females with complete 46, XY gonadal dysgenesis (GD) were analyzed using an Array 2.7 M platform with whole genome coverage. The analysis result suggested that the most significant region maps to chromosome 8q24.3 which were previously reported by another independent study with a similar patient cohort and this region being probable candidate related to complete 46, XY GD.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue3
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsorshipGazi University Scientific Research Foundation [01/2012-76] The authors want to thank all patients for participating in the study. This work was funded by the Gazi University Scientific Research Foundation, under grant agreement 01/2012-76.
dc.description.volume27
dc.identifier.doiN/A
dc.identifier.issn1015-8146
dc.identifier.linkhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85015156601&partnerID=40&md5=887a77a7a9bf9547dca8f9029a82dea5
dc.identifier.scopus2-s2.0-85015156601
dc.identifier.uriN/A
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10445
dc.identifier.wos395220700011
dc.keywordsComplete gonadal dysgenesis
dc.keywordsDisorders of sex development
dc.keywordsArray CGH
dc.keywordsDuplication of chromosome 8q24.3 region
dc.languageEnglish
dc.publisherEditions Medecine et Hygiene
dc.sourceGenetic Counseling
dc.subjectBiotechnology
dc.subjectApplied microbiology
dc.subjectGenetics
dc.subjectheredity
dc.subjectMedical ethics
dc.subjectMedicine
dc.subjectResearch and experimental medicine
dc.titleSubmicroscopic duplication of 8q24.3 region is a potential candidate for disorders of sex development
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.authorid0000-0003-0376-499X
local.contributor.kuauthorKayserili, Hülya

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