Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism von Topaloglu, A. Kemal

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Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 von Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M, Özen, Samim, Yan, Yi, Hamedani, Mohammad K, Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A Kemal, Leygue, Etienne

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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism von 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

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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations von Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A Kemal

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MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability von 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

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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction von 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

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Mutations in FEZF1 Cause Kallmann Syndrome von 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

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Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism von 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

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Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans von 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.

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PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism von 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

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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 von 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

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CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration von 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

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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression von 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

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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families von 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

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Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs von 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.

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Review of human genetic and clinical studies directly relevant to GnRH signalling von Seminara, Stephanie B., Topaloglu, A. Kemal

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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients von 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.

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Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor von 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

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Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1 von Ulubay, Ayca, Kotan, L. Damla, Cooper, Charlton, Darcan, Sukran, Carr, Ian M, Ozen, Samim, Yan, Yi, Hamedani, Mohammad K, Gurbuz, Fatih, Mengen, Eda, Turan, Ihsan, Akkus, Gamze, Yuksel, Bilgin, Leygue, Etienne, Topaloglu, A. Kemal

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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders von 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

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