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Page 1
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R. Rojas RA, et al. Genet Med. 2023 Jun;25(6):100855. doi: 10.1016/j.gim.2023.100855. Genet Med. 2023. PMID: 37272927 Free article. No abstract available.
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. 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.
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: stamou mi. J Clin Endocrinol Metab. 2024 Sep 18:dgae620. doi: 10.1210/clinem/dgae620. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39290158
29 results