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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders.
Sun B, Stamou MI, Stockman SL, Campbell MB, Plummer L, Salnikov KB, Kotan LD, Topaloglu AK, Hisama FM, Davis EE, Seminara SB, Balasubramanian R. Sun B, et al. Among authors: topaloglu ak. J Clin Endocrinol Metab. 2024 Sep 18:dgae620. doi: 10.1210/clinem/dgae620. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39290158
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: topaloglu ak. 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.
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: topaloglu ak. 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.
Molecular causes of hypogonadotropic hypogonadism.
Topaloglu AK, Kotan LD. Topaloglu AK, et al. Curr Opin Obstet Gynecol. 2010 Aug;22(4):264-70. doi: 10.1097/GCO.0b013e32833bb425. Curr Opin Obstet Gynecol. 2010. PMID: 20543690 Review.
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Kotan LD, Yildiz M, Turan I, Celiloglu C, Yuksel B, Topaloglu AK. Kotan LD, et al. Among authors: topaloglu ak. Am J Med Genet A. 2023 Mar;191(3):831-834. doi: 10.1002/ajmg.a.63066. Epub 2022 Dec 1. Am J Med Genet A. 2023. PMID: 36454653
115 results