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Page 1
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.
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. Chew S, et al. Among authors: balasubramanian r. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31. Brain. 2013. PMID: 23378218 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.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr. Balasubramanian R, et al. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3. Proc Natl Acad Sci U S A. 2014. PMID: 25472840 Free PMC article.
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.
534 results