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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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Date
2019-08-01
Author
Gulec, Elif Yilmaz
Gezdirici, 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
Type
Article
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Abstract
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.
Subject
Jolly 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
URI
https://hdl.handle.net/20.500.12645/10353
Collections
  • PubMed İndeksli Yayın Koleksiyonu [3669]
  • Scopus İndeksli Yayınlar Koleksiyonu [4450]
  • Tıp Fakültesi [2546]
  • WoS İndeksli Yayınlar Koleksiyonu [5147]
  • Yayınlar - Eserler [9988]

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BEZMIALEM VAKIF UNIVERSITY

About us |Policies | Library | Contact us | Send Feedback | Sitemap | Admin

Bezmialem Vakıf Üniversitesi, Adnan Menderes Bulvarı Vatan Caddesi 34093 Fatih, İstanbul / TURKEY
Copyright © Bezmialem Vakıf Üniversitesi

Creative Commons Lisansı
Bezmialem Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

OpenAccess@BVU

Support by  UNIREPOS