Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
Date
2019-08-01Author
Gulec, Elif YilmazGezdirici, Alper
Karaca, Ender
Pehlivan, Davut
Jhangiani, Shalini N.
Muzny, Donna M.
Poyrazoglu, Sukran
Bereket, Abdullah
Gibbs, Richard A.
Posey, Jennifer E.
Lupski, James R.
Jolly, Angad
Bayram, Yavuz
Turan, Serap
Aycan, Zehra
Tos, Tulay
Abali, Zehra Yavas
Hacihamdioglu, Bulent
Akdemir, Zeynep Hande Coban
Hijazi, Hadia
Bas, Serpil
YEŞİL, GÖZDE
Atay, Zeynep
Guran, Tulay
Abali, Saygin
Bas, Firdevs
Darendeliler, Feyza
Colombo, Roberto
Barakat, Tahsin Stefan
Rinne, Tuula
White, Janson J.
Advisor
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Context: 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.
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