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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. Among authors: mengen e. 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.
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: mengen e. 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.
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.
Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG. Yüksel B, et al. Among authors: mengen e. Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1. Horm Res Paediatr. 2013. PMID: 23920000 Clinical Trial.
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: mengen e. 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. Among authors: mengen e. 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.
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
Kotan LD, Cooper C, Darcan Ş, Carr IM, Özen S, Yan Y, Hamedani MK, Gürbüz F, Mengen E, Turan İ, Ulubay A, Akkuş G, Yüksel B, Topaloğlu AK, Leygue E. Kotan LD, et al. Among authors: mengen e. J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):125-34. doi: 10.4274/jcrpe.3248. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27086651 Free PMC article.
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
Akkuş G, Kotan LD, Durmaz E, Mengen E, Turan İ, Ulubay A, Gürbüz F, Yüksel B, Tetiker T, Topaloğlu AK. Akkuş G, et al. Among authors: mengen e. J Clin Res Pediatr Endocrinol. 2017 Jun 1;9(2):95-100. doi: 10.4274/jcrpe.3908. Epub 2016 Dec 23. J Clin Res Pediatr Endocrinol. 2017. PMID: 28008864 Free PMC article.
34 results