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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 LD, Ternier G, Cakir AD, Emeksiz HC, Turan I, Delpouve G, Kardelen AD, Ozcabi B, Isik E, Mengen E, Cakir EDP, Yuksel A, Agladioglu SY, Dilek SO, Evliyaoglu O, Darendeliler F, Gurbuz F, Akkus G, Yuksel B, Giacobini P, Topaloglu AK. Kotan LD, et al. Genet Med. 2021 Jun;23(6):1008-1016. doi: 10.1038/s41436-020-01087-5. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495532 Free PMC article.
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK. Topaloglu AK, et al. Among authors: kotan ld. Nat Genet. 2009 Mar;41(3):354-358. doi: 10.1038/ng.306. Epub 2008 Dec 11. Nat Genet. 2009. PMID: 19079066 Free PMC article.
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK. Guran T, et al. Among authors: kotan ld. J Clin Endocrinol Metab. 2009 Oct;94(10):3633-3639. doi: 10.1210/jc.2009-0551. Epub 2009 Sep 15. J Clin Endocrinol Metab. 2009. PMID: 19755480 Free PMC article.
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.
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
Gürbüz F, Kotan LD, Mengen E, Şıklar Z, Berberoğlu M, Dökmetaş S, Kılıçlı MF, Güven A, Kirel B, Saka N, Poyrazoğlu Ş, Cesur Y, Doğan M, Özen S, Özbek MN, Demirbilek H, Kekil MB, Temiz F, Önenli Mungan N, Yüksel B, Topaloğlu AK. Gürbüz F, et al. Among authors: kotan ld. J Clin Res Pediatr Endocrinol. 2012 Sep;4(3):121-6. doi: 10.4274/jcrpe.725. Epub 2012 Jul 5. J Clin Res Pediatr Endocrinol. 2012. PMID: 22766261 Free PMC 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.
33 results