Now showing items 1-6 of 6

    • Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study 

      CETINKAYA, Ergun; DARCAN, ŞÜKRAN; Yuksel, Aysegul; Binay, Cigdem; Simsek, Damla Goksen; Kara, Cengiz; Saglam, Halil; Hatun, Sukru; Cesur, YAŞAR; Bereket, Abdullah; Simsek, Enver; UNUVAR, Tolga; UCAKTURK, Ahmet; Tutunculer, Filiz; Bundak, Ruveyde; DEMIRBILEK, Huseyin (2016-09-01)
      Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey.
    • Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease 

      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. (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 ...
    • Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism 

      Bayram, Yavuz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Bereket, Abdullah; Lupski, James R.; King, Mary-Claire; Gibbs, Richard A.; Boerwinkle, Eric; Buyukgebiz, Atilla; Yesil, Gozde; Muzny, Donna; Gulsuner, Suleyman; GÜRAN, TÜLAY; Abaci, Ayhan; Gulsuner, Hilal Unal; Atay, Zeynep; Pierce, Sarah B.; Gambin, Tomasz; Lee, Ming; Turan, Serap; Bober, Ece; Atik, Mehmed M.; Walsh, Tom (2015-05-01)
      Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex ...
    • PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans 

      Aru, Basak; Bereket, Abdullah; TİNAY, İLKER; Arslan, Sema; Karademir, Betul; GÜRAN, TÜLAY; Eren, Funda S.; Demirel, Gulderen Y.; Ercan, Feriha; Koroglu, M. Kutay; YEŞİL, GÖZDE; Turan, Serap; Atay, Zeynep; BOZKURTLAR, EMİNE; Aghayev, AghaRza; Gul, Sinem (2019-05-01)
      Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis ...
    • Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort 

      Isik, Emregul; Bolu, Semih; Ozhan, Bayram; Gurbuz, Fatih; Ucar, Ahmet; Demirbilek, Huseyin; Yavas Abali, Zehra; Doger, Esra; Berberoglu, Merih; Hacihamdioglu, Bulent; Achermann, John C.; ÖZGEN, İLKER TOLGA; Eren, Erdal; Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs; Darcan, Sukran; Bideci, Aysun; Turan, Serap; Guven, Ayla; Tarim, Omer; Agladioglu, Sebahat Yilmaz; Atay, Zeynep; Özen, Samim; Demir, Korcan; Akinci, Aysehan; Kucukemre Aydin, Banu; Buyukinan, Muammer; Yuksel, Bilgin; Yildiz, Metin; Akcay, Teoman; Kara, Cengiz; Catli, Gonul (2015-10-03)
    • Turner sendromlu türk kızlarının büyüme eğrileri: FAVOR Turner sendromu çalışma grubu 

      Bolu, S; Çatlı, G; Can, H D; Gürbüz, F; Binay, Ç; Baş, V N; Sağlam, C; Gül, D; Polat, AYTEN; Açıkel, C; Cinaz, P; ÖZGEN, İLKER TOLGA; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, H C; Demir, K; Kızılay, D; Topaloğlu, A K; Eren, E; Özen, S; Demirbilek, H; Abalı, S; Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, B; Büyükinan, M; Kara, C; Yazıcıoğlu, M M; Adal, Erdal; Akıncı, Ayşehan; Atabek, M E; Demirel, Fatma; Çelik, N; Özkan, B; Özhan, B; Orbak, Z; Ersoy, Betül; Doğan, M; Ataş, A; Turan, Serap; Gökşen, D; Tarım, Ö; Yüksel, B; Ercan, O; Hatun, Ş; Şimşek, Enver; Ökten, A; Abacı, A; Döneray, H; Özbek, M N; Akın, L; Eklioğlu, B S; Kaba, S; Anık, A; Baş, S; Ünüvar, T; Sağlam, H; Doğan, D; Çakır, E D; Şen, Y; Andıran, N; Çizmecioğlu, F; Evliyaoğlu, O; Karagüzel, G; Pirgon, Ö (2015-11-08)