Now showing items 1-11 of 11

    • An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency 

      KAYGUSUZ, SARE BETÜL; BEREKET, ABDULLAH; Turan, Serap; KIRKGÖZ, TARIK; YEŞİL, GÖZDE; GÜRAN, TÜLAY (2018-01-01)
    • Circulating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: Evidence from children with rickets 

      ADAL, Erdal; Akçay, Teoman; ONAN, Sertaç Hanedan; Turan, Serap; Özkan, Behzat; Cesur, YAŞAR; HAKLAR, GONCAGÜL; DÖNERAY, Hakan; BEREKET, ABDULLAH (2010-03-01)
    • 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 ...
    • Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature 

      Abali, Zehra Yavas; GÜRAN, TÜLAY; KIRKGÖZ, TARIK; YEŞİL, GÖZDE; BEREKET, ABDULLAH; Turan, Serap; ELTAN, MEHMET; KAYGUSUZ, SARE BETÜL (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 

      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)
    • Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort 

      Ozhan, Bayram; DEMIRBILEK, Huseyin; UCAR, Ahmet; ISIK, Emregul; AKCAY, Teoman; Bolu, Semih; Suntharalingham, Jenifer P.; Achermann, John C.; GÜRAN, TÜLAY; Buonocore, Federica; Saka, Nurcin; OZBEK, Mehmet Nuri; Ozgen, Ilker Tolga; YILDIZ, Metin; 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; Ozen, Samim; Doger, Esra (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 

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