Browsing by Author "Turan, Serap"

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Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Lupski, James R. (Endocrine Soc, 2019)

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 ...
Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases

Guran, Tulay; Kara, Cengiz; Yildiz, Melek; Bitkin, Eda C.; Haklar, Goncagul; Lin, Jen-Chieh; Keskin, Mehmet; Barnard, Lise; Anik, Ahmet; Catli, Gonul; Guven, Ayla; Kirel, Birgul; Tutunculer, Filiz; Onal, Hasan; Turan, Serap; Akcay, Teoman; Atay, Zeynep; Yilmaz, Gulay C.; Mamadova, Jamala; Akbarzade, Azad; Sirikci, Onder; Storbeck, Karl-Heinz; Baris, Tugba; Chung, Bon-Chu; Bereket, Abdullah (Endocrine Soc, 2020)

Context: The clinical effects of classical 3 beta-hydroxysteroid dehydrogenase 2 (3 beta HSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective: To evaluate an integrated steroid ...