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Page 1
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.
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.
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Choi JH, et al. Among authors: balasubramanian r. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. J Clin Endocrinol Metab. 2015. PMID: 26207952 Free PMC article.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: balasubramanian r. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
538 results