Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans
Topaloglu, A. Kemal, Simsek, Enver, Kocher, Matthew A., Mammadova, Jamala, Bober, Ece, Kotan, Leman Damla, Turan, Ihsan, Celiloglu, Can, Gurbuz, Fatih, Yuksel, Bilgin, Good, Deborah J.
Published in Human genetics (01.02.2022)
Published in Human genetics (01.02.2022)
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21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification
Turan, Ihsan, Tastan, Mehmet, Boga, Duygu D., Gurbuz, Fatih, Kotan, Leman D., Tuli, Abdullah, Yüksel, Bilgin
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism
Welch, Bradley A., Cho, Hyun‐ju, Ucakturk, Seyit Ahmet, Farmer, Stephen Matthew, Cetinkaya, Semra, Abaci, Ayhan, Akkus, Gamze, Simsek, Enver, Kotan, Leman Damla, Turan, Ihsan, Gurbuz, Fatih, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal
Published in Journal of neuroendocrinology (01.04.2022)
Published in Journal of neuroendocrinology (01.04.2022)
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CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration
Hutchins, B. Ian, Kotan, L. Damla, Taylor-Burds, Carol, Ozkan, Yusuf, Cheng, Paul J, Gurbuz, Fatih, Tiong, Jean D. R, Mengen, Eda, Yuksel, Bilgin, Topaloglu, A. Kemal, Wray, Susan
Published in Endocrinology (Philadelphia) (01.05.2016)
Published in Endocrinology (Philadelphia) (01.05.2016)
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Journal Article
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, Ihsan, Delpouve, Gaspard, De Kardelen, Asli rya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, De Cakir, Esra niz P., Yuksel, Aysegul, Agladioglu, Sebahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Topaloglu, A. Kemal
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
Demirbilek, Huseyin, Cayir, Atilla, Flanagan, Sarah E, Yıldırım, Ruken, Kor, Yılmaz, Gurbuz, Fatih, Haliloğlu, Belma, Yıldız, Melek, Baran, Rıza Taner, Akbas, Emine Demet, Demiral, Meliha, Ünal, Edip, Arslan, Gulcin, Vuralli, Dogus, Buyukyilmaz, Gonul, Al-Khawaga, Sara, Saeed, Amira, Al Maadheed, Maryam, Khalifa, Amel, Onal, Hasan, Yuksel, Bilgin, Ozbek, Mehmet Nuri, Bereket, Abdullah, Hattersley, Andrew T, Hussain, Khalid, De Franco, Elisa
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
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17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort
Siklar, Zeynep, Camtosun, Emine, Bolu, Semih, Yildiz, Melek, Akinci, Aysehan, Bas, Firdevs, Dündar, İsmail, Bestas, Asli, Ünal, Edip, Kocaay, Pinar, Guran, Tulay, Buyukyilmaz, Gonul, Ugurlu, Aylin Kilinc, Tosun, Buşra Gurpinar, Turan, Ihsan, Kurnaz, Erdal, Yuksel, Bilgin, Turkkahraman, Doga, Cayir, Atilla, Celmeli, Gamze, Gonc, E. Nazli, Eklioğlu, Beray Selver, Cetinkaya, Semra, Yilmaz, Seniha Kiremitci, Atabek, Mehmet Emre, Buyukinan, Muammer, Arslan, Emrullah, Mengen, Eda, Cakir, Esra Deniz Papatya, Karaoglan, Murat, Hatipoglu, Nihal, Orbak, Zerrin, Ucar, Ahmet, Akyurek, Nesibe, Akbas, Emine Demet, Isik, Emregül, Kaygusuz, Sare Betul, Sutcu, Zumrut Kocabey, Seymen, Gulcan, Berberoglu, Merih
Published in Endocrine (2024)
Published in Endocrine (2024)
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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression
Cho, Hyun-Ju, Gurbuz, Fatih, Stamou, Maria, Kotan, Leman Damla, Farmer, Stephen Matthew, Can, Sule, Tompkins, Miranda Faith, Mammadova, Jamala, Altincik, S Ayca, Gokce, Cumali, Catli, Gonul, Bugrul, Fuat, Bartlett, Keenan, Turan, Ihsan, Balasubramanian, Ravikumar, Yuksel, Bilgin, Seminara, Stephanie B, Wray, Susan, Topaloglu, A Kemal
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
Savaş-Erdeve, Şenay, Aycan, Zehra, Çetinkaya, Semra, Öztürk, Ayşe Pınar, Baş, Firdevs, Poyrazoğlu, Şükran, Darendeliler, Feyza, Özsu, Elif, Şıklar, Zeynep, Demiral, Meliha, Unal, Edip, Özbek, Mehmet Nuri, Gürbüz, Fatih, Yüksel, Bilgin, Evliyaoğlu, Olcay, Akyürek, Nesibe, Berberoğlu, Merih
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
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Unusual and early onset IPEX syndrome: a case report
Doğruel, Dilek, Gürbüz, Fatih, Turan, İhsan, Altıntaş, Derya Ufuk, Yılmaz, Mustafa, Yüksel, Bilgin
Published in Turkish journal of pediatrics (01.07.2019)
Published in Turkish journal of pediatrics (01.07.2019)
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Journal Article
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Demirbilek, Huseyin, Ozbek, M. Nuri, Demir, Korcan, Kotan, L. Damla, Cesur, Yasar, Dogan, Murat, Temiz, Fatih, Mengen, Eda, Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, A. Kemal
Published in Clinical endocrinology (Oxford) (01.03.2015)
Published in Clinical endocrinology (Oxford) (01.03.2015)
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Can brain edema be predicted with optic nerve sheath diameter measurement in cases with diabetic ketoacidosis? : A preliminary study
Tolu Kendir,Özlem, Yılmaz,Hayri Levent, Erkek,Nilgün, Sarı Gökay,Sinem, Yıldızdaş,Rıza Dinçer, Yüksel,Bilgin
Published in İstanbul Tıp Fakültesi Dergisi (11.03.2022)
Published in İstanbul Tıp Fakültesi Dergisi (11.03.2022)
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Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
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Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene
Bens, Susanne, Mohn, Angelika, Yüksel, Bilgin, Kulle, Alexandra E, Michalek, Matthias, Chiarelli, Franco, Nuri Özbek, Mehmet, Leuschner, Ivo, Grötzinger, Joachim, Holterhus, Paul-Martin, Riepe, Felix G
Published in The journal of clinical endocrinology and metabolism (01.03.2010)
Published in The journal of clinical endocrinology and metabolism (01.03.2010)
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Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study
Baş, Firdevs, Uyguner, Z. Oya, Darendeliler, Feyza, Aycan, Zehra, Çetinkaya, Ergun, Berberoğlu, Merih, Şiklar, Zeynep, Öcal, Gönül, Darcan, Şükran, Gökşen, Damla, Topaloğlu, Ali Kemal, Yüksel, Bilgin, Özbek, Mehmet Nuri, Ercan, Oya, Evliyaoğlu, Olcay, Çetinkaya, Semra, Şen, Yaşar, Atabek, Emre, Toksoy, Güven, Aydin, Banu Küçükemre, Bundak, Rüveyde
Published in Endocrine (01.06.2015)
Published in Endocrine (01.06.2015)
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Vitamin D Deficiency in Obsessive-Compulsive Disorder Patients with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: A Case Control Study
Çelik, Gonca, Taş, Didem, Tahiroğlu, Ayşegül, Avci, Ayşe, Yüksel, Bilgin, Çam, Perihan
Published in Noro-Psikiyatri Arsivi (01.03.2016)
Published in Noro-Psikiyatri Arsivi (01.03.2016)
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