Now showing items 1-5 of 5

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

      Aslanger, Ayca; Darendeliler, Feyza; Bas, Firdevs; Ceylaner, Serdar; YEŞİL, Gözde; Al, Asli Derya Kardelen; Poyrazoglu, Sukran (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 ...
    • Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey 

      OZGEN, Tolga; Keskin, Mehmet; Kurtoglu, Selim; MEMIOGLU, Nihal; OZBEK, Mehmet Nuri; SARI, Erkan; Siklar, Zeynep; Simsek, Enver; Turan, Serap; YESILKAYA, Ediz; Yuksel, Bilgin; Darendeliler, Feyza; Cesur, YAŞAR; Poyrazoglu, Sukran; AKCAY, Teoman; Arslanoglu, Ilknur; Atabek, Mehmet Ernie; Atay, Zeynep; Berberoglu, Merih; BEREKET, ABDULLAH; Bideci, Aysun; Bircan, Iffet; Bober, Ece; CAN, Sule; Darcan, Sukran; DEMIR, Korcan; DUNDAR, Bumin; Ersoy, Betul; Esen, Ihsan; GUVEN, Ayla; Kara, Cengiz (2015-03-01)
      Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing ...
    • 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 ...
    • TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis 

      Hoegler, Wolfgang; Cesur, YAŞAR; Shaw, Nick J.; Boelaert, Kristien; Kendall, Michaela; Karthikeyan, Ambika; Aydin, Banu K.; KIRAZ, Aslihan; Demir, Korcan; Eren, Erdal; BAS, Veysel; Darendeliler, Feyza; Kurtoglu, Selim; MAHER, Eamonn R.; Barrett, Timothy G.; Cangul, Hakan; AYCAN, Zehra; Saglam, Halil; FORMAN, Julia R.; CETINKAYA, Semra; Tarim, Omer; Bober, Ece; Kirk, Jeremy (2012-06-01)
      Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly ...
    • 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)