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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Cho HJ, Gurbuz F, Stamou M, Kotan LD, Farmer SM, Can S, Tompkins MF, Mammadova J, Altincik SA, Gokce C, Catli G, Bugrul F, Bartlett K, Turan I, Balasubramanian R, Yuksel B, Seminara SB, Wray S, Topaloglu AK. Cho HJ, et al. Among authors: kotan ld. Front Endocrinol (Lausanne). 2023 Aug 1;14:1203542. doi: 10.3389/fendo.2023.1203542. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600690 Free PMC article.
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
Turan I, Hutchins BI, Hacihamdioglu B, Kotan LD, Gurbuz F, Ulubay A, Mengen E, Yuksel B, Wray S, Topaloglu AK. Turan I, et al. Among authors: kotan ld. J Clin Endocrinol Metab. 2017 Jun 1;102(6):1816-1825. doi: 10.1210/jc.2016-3391. J Clin Endocrinol Metab. 2017. PMID: 28324054 Free PMC article.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
Welch BA, Cho HJ, Ucakturk SA, Farmer SM, Cetinkaya S, Abaci A, Akkus G, Simsek E, Kotan LD, Turan I, Gurbuz F, Yuksel B, Wray S, Topaloglu AK. Welch BA, et al. Among authors: kotan ld. J Neuroendocrinol. 2022 Apr;34(4):e13103. doi: 10.1111/jne.13103. Epub 2022 Feb 16. J Neuroendocrinol. 2022. PMID: 35170806
Neurokinin B signalling in human puberty.
Topaloglu AK, Kotan LD, Yuksel B. Topaloglu AK, et al. Among authors: kotan ld. J Neuroendocrinol. 2010 Jul;22(7):765-70. doi: 10.1111/j.1365-2826.2010.02013.x. Epub 2010 Apr 29. J Neuroendocrinol. 2010. PMID: 20456599 Review.
Molecular causes of hypogonadotropic hypogonadism.
Topaloglu AK, Kotan LD. Topaloglu AK, et al. Among authors: kotan ld. Curr Opin Obstet Gynecol. 2010 Aug;22(4):264-70. doi: 10.1097/GCO.0b013e32833bb425. Curr Opin Obstet Gynecol. 2010. PMID: 20543690 Review.
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B. Topaloglu AK, et al. Among authors: kotan ld. N Engl J Med. 2012 Feb 16;366(7):629-35. doi: 10.1056/NEJMoa1111184. N Engl J Med. 2012. PMID: 22335740 Free article.
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Topaloglu AK, et al. Among authors: kotan ld. J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836. Epub 2014 Jul 17. J Clin Endocrinol Metab. 2014. PMID: 25033069 Free PMC article.
Mutations in FEZF1 cause Kallmann syndrome.
Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK. Kotan LD, et al. Am J Hum Genet. 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006. Am J Hum Genet. 2014. PMID: 25192046 Free PMC article.
33 results