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Page 1
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF. Stamou M, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2020 Mar 1;105(3):e231-44. doi: 10.1210/clinem/dgz011. J Clin Endocrinol Metab. 2020. PMID: 31628846 Free PMC article.
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R. Dwyer AA, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. J Clin Endocrinol Metab. 2023. PMID: 36268624 Free PMC article.
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R. Dwyer AA, et al. Among authors: balasubramanian r. Front Endocrinol (Lausanne). 2022 Nov 2;13:1054447. doi: 10.3389/fendo.2022.1054447. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36407308 Free PMC article.
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL Jr, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF Jr, Seminara SB, Mellon PL, Balasubramanian R. Cassin J, et al. Among authors: balasubramanian r. JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324. JCI Insight. 2023. PMID: 36602867 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: balasubramanian r. 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.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB. Lippincott MF, et al. Among authors: balasubramanian r. Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30. Genet Med. 2022. PMID: 36178483 Free PMC article.
536 results