Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
Topaloglu, A. Kemal, Tello, Javier A, Kotan, L. Damla, Ozbek, Mehmet N, Yilmaz, M. Bertan, Erdogan, Seref, Gurbuz, Fatih, Temiz, Fatih, Millar, Robert P, Yuksel, Bilgin
Published in The New England journal of medicine (16.02.2012)
Published in The New England journal of medicine (16.02.2012)
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MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability
Wood-Trageser, Michelle A., Gurbuz, Fatih, Yatsenko, Svetlana A., Jeffries, Elizabeth P., Kotan, L. Damla, Surti, Urvashi, Ketterer, Deborah M., Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Trakselis, Michael A., Topaloglu, A. Kemal, Rajkovic, Aleksandar
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
Topaloglu, A Kemal, O'Rahilly, Stephen, Reimann, Frank, Guclu, Metin, Yalin, Ayse Serap, Kotan, L Damla, Porter, Keith M, Serin, Ayse, Mungan, Neslihan O, Cook, Joshua R, Ozbek, Mehmet N, Imamoglu, Sazi, Akalin, N Sema, Yuksel, Bilgin, Semple, Robert K
Published in Nature genetics (01.03.2009)
Published in Nature genetics (01.03.2009)
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Journal Article
Mutations in FEZF1 Cause Kallmann Syndrome
Kotan, L. Damla, Hutchins, B. Ian, Ozkan, Yusuf, Demirel, Fatma, Stoner, Hudson, Cheng, Paul J., Esen, Ihsan, Gurbuz, Fatih, Bicakci, Y. Kenan, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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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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Journal Article
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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Journal Article
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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Journal Article
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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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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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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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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Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs
Keane, Fiona M., Yao, Tsun-Wen, Seelk, Stefanie, Gall, Margaret G., Chowdhury, Sumaiya, Poplawski, Sarah E., Lai, Jack H., Li, Youhua, Wu, Wengen, Farrell, Penny, Vieira de Ribeiro, Ana Julia, Osborne, Brenna, Yu, Denise M.T., Seth, Devanshi, Rahman, Khairunnessa, Haber, Paul, Topaloglu, A. Kemal, Wang, Chuanmin, Thomson, Sally, Hennessy, Annemarie, Prins, John, Twigg, Stephen M., McLennan, Susan V., McCaughan, Geoffrey W., Bachovchin, William W., Gorrell, Mark D.
Published in FEBS open bio (01.01.2014)
Published in FEBS open bio (01.01.2014)
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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients
Rosa, S, Duff, C, Meyer, M, Lang-Muritano, M, Balercia, G, Boscaro, M, Kemal Topaloglu, A, Mioni, R, Fallo, F, Zuliani, L, Mantero, F, Schoenle, E. J, Biason-Lauber, A
Published in The journal of clinical endocrinology and metabolism (01.03.2007)
Published in The journal of clinical endocrinology and metabolism (01.03.2007)
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Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism
Topaloglu, A. Kemal
Published in Journal of clinical research in pediatric endocrinology (01.12.2017)
Published in Journal of clinical research in pediatric endocrinology (01.12.2017)
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Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor
Guran, Tulay, Tolhurst, Gwen, Bereket, Abdullah, Rocha, Nuno, Porter, Keith, Turan, Serap, Gribble, Fiona M, Kotan, L. Damla, Akcay, Teoman, Atay, Zeynep, Canan, Husniye, Serin, Ayse, O'Rahilly, Stephen, Reimann, Frank, Semple, Robert K, Topaloglu, A. Kemal
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Journal Article
Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders
Sun, Bang, Stamou, Maria I, Stockman, Sara L, Campbell, Mark B, Plummer, Lacey, Salnikov, Kathryn B, Kotan, Leman Damla, Topaloglu, A Kemal, Hisama, Fuki M, Davis, Erica E, Seminara, Stephanie B, Balasubramanian, Ravikumar
Published in The journal of clinical endocrinology and metabolism (18.09.2024)
Published in The journal of clinical endocrinology and metabolism (18.09.2024)
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Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism
Kotan, Leman D., Isik, Emregul, Turan, Ihsan, Mengen, Eda, Akkus, Gamze, Tastan, Mehmet, Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, A. Kemal
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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