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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Journal Article
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
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision
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.
Published in European journal of neurology (01.11.2021)
Published in European journal of neurology (01.11.2021)
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Journal Article
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision
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.
Published in Journal of the peripheral nervous system (01.09.2021)
Published in Journal of the peripheral nervous system (01.09.2021)
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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
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
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
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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Journal Article
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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Journal Article
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism
Turan, Ihsan, Hutchins, B. Ian, Hacihamdioglu, Bulent, Kotan, L. Damla, Gurbuz, Fatih, Ulubay, Ayca, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal
Published in The journal of clinical endocrinology and metabolism (01.06.2017)
Published in The journal of clinical endocrinology and metabolism (01.06.2017)
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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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Journal Article
Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
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
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Journal Article
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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Journal Article
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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