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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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task For... von Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

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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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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task For... von Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

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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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Review of human genetic and clinical studies directly relevant to GnRH signalling von Seminara, Stephanie B., 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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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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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions von Semple, Robert K., Topaloglu, A. Kemal

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Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism von Kotan, Leman D., Isik, Emregul, Turan, Ihsan, Mengen, Eda, Akkus, Gamze, Tastan, Mehmet, Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, A. Kemal

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CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism von Turan, Ihsan, Hutchins, B. Ian, Hacihamdioglu, Bulent, Kotan, L. Damla, Gurbuz, Fatih, Ulubay, Ayca, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal

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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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In Situ Respirometric Kinetic Analysis of a Thermophilic Jet Loop Bioreactor von İnce, M., İnce, E., Topaloğlu, A.

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Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome von Topaloglu, A. Kemal, Lomniczi, Alejandro, Kretzschmar, Doris, Dissen, Gregory A, Kotan, L. Damla, McArdle, Craig A, Koc, A. Filiz, Hamel, Ben C, Guclu, Metin, Papatya, Esra D, Eren, Erdal, Mengen, Eda, Gurbuz, Fatih, Cook, Mandy, Castellano, Juan M, Kekil, M. Burcu, Mungan, Neslihan O, Yuksel, Bilgin, Ojeda, Sergio R

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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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Neurokinin B signalling in the human reproductive axis von Topaloglu, A. Kemal, Semple, Robert K.

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