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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Xu N, Kim HG, Bhagavath B, Cho SG, Lee JH, Ha K, Meliciani I, Wenzel W, Podolsky RH, Chorich LP, Stackhouse KA, Grove AM, Odom LN, Ozata M, Bick DP, Sherins RJ, Kim SH, Cameron RS, Layman LC. Xu N, et al. Fertil Steril. 2011 Apr;95(5):1613-20.e1-7. doi: 10.1016/j.fertnstert.2011.01.010. Epub 2011 Feb 15. Fertil Steril. 2011. PMID: 21300340 Free PMC article.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration.
Xu N, Bhagavath B, Kim HG, Halvorson L, Podolsky RS, Chorich LP, Prasad P, Xiong WC, Cameron RS, Layman LC. Xu N, et al. Mol Cell Endocrinol. 2010 May 5;319(1-2):47-55. doi: 10.1016/j.mce.2009.11.016. Epub 2009 Dec 16. Mol Cell Endocrinol. 2010. PMID: 20025934 Free PMC article.
The genetics of hypogonadotropic hypogonadism.
Bhagavath B, Layman LC. Bhagavath B, et al. Semin Reprod Med. 2007 Jul;25(4):272-86. doi: 10.1055/s-2007-980221. Semin Reprod Med. 2007. PMID: 17594608 Review.
19 results