Now showing items 1-3 of 3

    • Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism 

      KOTAN, LEMAN DAMLA; Mengen, Eda; Siklar, Zeynep; Berberoglu, Merih; GÜRBÜZ, FATİH; Dokmetas, Sebila; Kilicli, Mehmet Fatih; GUVEN, Ayla; Kirel, Birgul; Saka, Nurcin; Poyrazoglu, Sukran; Cesur, YAŞAR; Dogan, Murat; OZEN, Samim; OZBEK, Mehmet Nuri; DEMIRBILEK, Huseyin; Kekil, M. Burcu; Temiz, Fatih; Mungan, Neslihan Onenli; Yuksel, Bilgin; Topaloglu, Ali Kemal (2012-01-01)
      Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. ...
    • 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 ...