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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 分享 收藏
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 分享 收藏
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism 特发性低促性腺激素性性腺功能减退症的病因中的PLXNB1突变 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 分享 收藏
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. 分享 收藏
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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 Kotan, Leman Damla; Ternier, Gaetan; Cakir, Aydilek Dagdeviren; Emeksiz, Hamdi Cihan; Turan, Ihsan; Delpouve, Gaspard; Kardelen, Asli Derya; Ozcabi, Bahar; Isik, Emregul; Mengen, Eda; Cakir, Esra Deniz P.; Yuksel, Aysegul; Agladioglu, Sebahat Yilmaz; Dilek, Semine Ozdemir; Evliyaoglu, Olcay; Darendeliler, Feyza; Gurbuz, Fatih; Akkus, Gamze; Yuksel, Bilgin; Giacobini, Paolo; Kemal Topaloglu, A. 分享 收藏
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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 分享 收藏
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 分享 收藏
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study Bas, Firdevs; Uyguner, Z. Oya; Darendeliler, Feyza; Aycan, Zehra; Cetinkaya, Ergun; Berberoglu, Merih; Siklar, Zeynep; Ocal, Gonul; Darcan, Sukran; Goksen, Damla; Topaloglu, Ali Kemal; Yuksel, Bilgin; Ozbek, Mehmet Nuri; Ercan, Oya; Evliyaoglu, Olcay; Cetinkaya, Semra; Sen, Yasar; Atabek, Emre; Toksoy, Guven; Aydin, Banu Kucukemre; Bundak, Ruveyde 分享 收藏
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 分享 收藏
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 分享 收藏
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. 分享 收藏
Mutations in FEZF1 Cause Kallmann Syndrome Kotan, L. Damla; Hutchins, B. Ian; Ozkan, Yusuf; Demire, Fatma; Stoner, Hudson; Cheng, Paul J.; Esen, Ihsan; Gurbuz, Fatih; Bicakci, Y. Kenan; Mengen, Eda; Yukse, Bilgin; Wray, Susan; Topaloglu, A. Kemal 分享 收藏
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 分享 收藏
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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, Goekhan; Canan, Husniye; Pawlik, Barbara; Nuernberg, Gudrun; Wakeling, Emma L.; Quarrell, Oliver W.; Baessmann, Ingelore; Lanktree, Matthew B.; Yilmaz, Mustafa; Hegele, Robert A.; Amr, Khalda; May, Klaus W.; Nuernberg, Peter; Topaloglu, A. Kemal; Hammerschmidt, Matthias; Wollnik, Bernd 分享 收藏
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