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

dc.contributor.authorBas, Serpil
dc.contributor.authorJolly, Angad
dc.contributor.authorBayram, Yavuz
dc.contributor.authorDEMİRCİOĞLU, SERAP
dc.contributor.authorAycan, Zehra
dc.contributor.authorTos, Tulay
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorHACIHAMDİOĞLU, BÜLENT
dc.contributor.authorAkdemir, Zeynep Hande Coban
dc.contributor.authorHijazi, Hadia
dc.contributor.authorAtay, Zeynep
dc.contributor.authorGÜRAN, TÜLAY
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.authorJhangiani, Shalini N.
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorPosey, Jennifer E.
dc.contributor.authorLupski, James R.
dc.contributor.authorAbali, Saygin
dc.contributor.authorPehlivan, Davut
dc.contributor.authorKaraca, Ender
dc.contributor.authorDarendeliler, Fatma Feyza
dc.contributor.authorBas, Firdevs
dc.contributor.authorPoyrazoglu, Sukran
dc.date.accessioned2021-03-03T18:04:05Z
dc.date.available2021-03-03T18:04:05Z
dc.date.issued2019
dc.identifier.citationJolly A., Bayram Y., DEMİRCİOĞLU S., Aycan Z., Tos T., Abali Z. Y. , HACIHAMDİOĞLU 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.", The Journal of clinical endocrinology and metabolism, cilt.104, sa.8, ss.3049-3067, 2019
dc.identifier.issn0021-972X
dc.identifier.othervv_1032021
dc.identifier.otherav_4d00d61b-9745-450f-9d95-fbaac5d134bd
dc.identifier.urihttp://hdl.handle.net/20.500.12627/55112
dc.identifier.urihttps://doi.org/10.1210/jc.2019-00248
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.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.titleExome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
dc.typeMakale
dc.relation.journalThe Journal of clinical endocrinology and metabolism
dc.contributor.departmentBaylor College of Medicine , ,
dc.identifier.volume104
dc.identifier.issue8
dc.identifier.startpage3049
dc.identifier.endpage3067
dc.contributor.firstauthorID266816


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