Now showing items 1-4 of 4

    • Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature 

      Abali, Zehra Yavas; YEŞİL, GÖZDE; KIRKGÖZ, TARIK; KAYGUSUZ, SARE BETÜL; ELTAN, MEHMET; Turan, Serap; BEREKET, ABDULLAH; GÜRAN, TÜLAY (2019-06-01)
      Background Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion ...
    • 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, Saygın; 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 ...
    • 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 ...
    • Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation 

      Abali, Zehra Yavas; YEŞİL, GÖZDE; KIRKGÖZ, TARIK; KAYGUSUZ, SARE BETÜL; Turan, Serap; BEREKET, ABDULLAH; GÜRAN, TÜLAY (2018-01-01)