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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.
The puzzles of the prokineticin 2 pathway in human reproduction.
Balasubramanian R, Plummer L, Sidis Y, Pitteloud N, Martin C, Zhou QY, Crowley WF Jr. Balasubramanian R, et al. Mol Cell Endocrinol. 2011 Oct 22;346(1-2):44-50. doi: 10.1016/j.mce.2011.05.040. Epub 2011 Jun 1. Mol Cell Endocrinol. 2011. PMID: 21664414 Free PMC article. Review.
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF Jr, Balasubramanian R. Lewkowitz-Shpuntoff HM, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2012 Jan;97(1):E136-44. doi: 10.1210/jc.2011-2041. Epub 2011 Nov 9. J Clin Endocrinol Metab. 2012. PMID: 22072740 Free PMC article.
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N. Avbelj Stefanija M, et al. Among authors: balasubramanian r. Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5. Hum Mol Genet. 2012. PMID: 22773735 Free PMC article.
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr. Costa-Barbosa FA, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26. J Clin Endocrinol Metab. 2013. PMID: 23533228 Free PMC article.
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB. Sidhoum VF, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2014 Mar;99(3):861-70. doi: 10.1210/jc.2013-2809. Epub 2013 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423288 Free PMC article.
533 results