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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: akkus g. J Neuroendocrinol. 2022 Apr;34(4):e13103. doi: 10.1111/jne.13103. Epub 2022 Feb 16. J Neuroendocrinol. 2022. PMID: 35170806 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: akkus g. 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. 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.
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: akkus g. 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.
54 results