Now showing items 1-4 of 4

    • A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature 

      Al, Asli Derya Kardelen; Poyrazoglu, Sukran; Aslanger, Ayca; YEŞİL, Gözde; Ceylaner, Serdar; Bas, Firdevs; Darendeliler, Feyza (2020-06-01)
      Introduction:Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the ...
    • 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; Hacihamdioglu, Bulent; Akdemir, Zeynep Hande Coban; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Abali, Saygin; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J.; YEŞİL, GÖZDE; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R. (2019-08-01)
      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 ...
    • Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort 

      Bolu, Semih; Ozhan, Bayram; Ucar, Ahmet; Demirbilek, Huseyin; Yavas Abali, Zehra; Bas, Firdevs; Berberoglu, Merih; Hacihamdioglu, Bulent; Achermann, John C.; Eren, Erdal; Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Özen, Samim; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Darcan, Sukran; Bideci, Aysun; Turan, Serap; Guven, Ayla; Tarim, Omer; ÖZGEN, İLKER TOLGA; Agladioglu, Sebahat Yilmaz; Isik, Emregul; Atay, Zeynep; Demir, Korcan; Akinci, Aysehan; Gurbuz, Fatih; Kucukemre Aydin, Banu; Buyukinan, Muammer; Yuksel, Bilgin; Doger, Esra; Yildiz, Metin; Akcay, Teoman; Kara, Cengiz; Catli, Gonul (2015-10-03)
    • Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort 

      GÜRAN, TÜLAY; Buonocore, Federica; Saka, Nurcin; OZBEK, Mehmet Nuri; Aycan, Zehra; BEREKET, ABDULLAH; Bas, Firdevs; DARCAN, ŞÜKRAN; Bideci, Aysun; GUVEN, Ayla; DEMIR, Korcan; Akinci, Aysehan; BUYUKINAN, Muammer; Aydin, Banu Kucukemre; Turan, Serap; AGLADIOGLU, Sebahat Yilmaz; ATAY, Zeynep; Abali, Zehra Yavas; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; AKCAY, Teoman; YILDIZ, Metin; Ozen, Samim; Doger, Esra; DEMIRBILEK, Huseyin; UCAR, Ahmet; ISIK, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker Tolga; Suntharalingham, Jenifer P.; Achermann, John C. (2016-01-01)
      Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular ...