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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

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dc.contributor.authorJolly, Angad
dc.contributor.authorBayram, Yavuz
dc.contributor.authorTuran, Serap
dc.contributor.authorAycan, Zehra
dc.contributor.authorTos, Tulay
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorHacihamdioglu, Bulent
dc.contributor.authorAkdemir, Zeynep Hande Coban
dc.contributor.authorHijazi, Hadia
dc.contributor.authorBas, Serpil
dc.contributor.authorAtay, Zeynep
dc.contributor.authorABALI, Saygın
dc.contributor.authorGuran, Tulay
dc.contributor.authorBas, Firdevs
dc.contributor.authorDarendeliler, Feyza
dc.contributor.authorColombo, Roberto
dc.contributor.authorBarakat, Tahsin Stefan
dc.contributor.authorRinne, Tuula
dc.contributor.authorWhite, Janson J.
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorGezdirici, Alper
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorKaraca, Ender
dc.contributor.authorPehlivan, Davut
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorBereket, Abdullah
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorPosey, Jennifer E.
dc.contributor.authorLupski, James R.
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:41:54Z
dc.date.available2019-11-17T23:41:54Z
dc.date.issued2019-08-01
dc.description.abstractContext: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hyper-gonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, and congenital disorders affecting ovarian development and function, as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a complex trait.
dc.identifier.citationJolly A., Bayram Y., Turan S., Aycan Z., Tos T., Abali Z. Y. , Hacihamdioglu B., Akdemir Z. H. C. , Hijazi H., Bas S., et al., -Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease-, JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.104, ss.3049-3067, 2019
dc.identifier.doi10.1210/jc.2019-00248
dc.identifier.pubmed31042289
dc.identifier.scopus85068196374
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10353
dc.identifier.wosWOS:000482558500001
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleExome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
dc.typeArticle
dspace.entity.typePublication
local.avesis.id4d00d61b-9745-450f-9d95-fbaac5d134bd
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70

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