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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: plummer l. JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324. JCI Insight. 2023. PMID: 36602867 Free PMC article.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Pitteloud N, et al. Among authors: plummer l. Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9. doi: 10.1016/j.mce.2006.04.021. Epub 2006 Jun 9. Mol Cell Endocrinol. 2006. PMID: 16764984
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W. Pitteloud N, et al. Among authors: plummer l. J Clin Invest. 2007 Feb;117(2):457-63. doi: 10.1172/JCI29884. Epub 2007 Jan 18. J Clin Invest. 2007. PMID: 17235395 Free PMC article.
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY, Crowley WF Jr. Pitteloud N, et al. Among authors: plummer l. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17447-52. doi: 10.1073/pnas.0707173104. Epub 2007 Oct 24. Proc Natl Acad Sci U S A. 2007. PMID: 17959774 Free PMC article.
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N. Cole LW, et al. Among authors: plummer l. J Clin Endocrinol Metab. 2008 Sep;93(9):3551-9. doi: 10.1210/jc.2007-2654. Epub 2008 Jun 17. J Clin Endocrinol Metab. 2008. PMID: 18559922 Free PMC article.
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Falardeau J, et al. Among authors: plummer l. J Clin Invest. 2008 Aug;118(8):2822-31. doi: 10.1172/JCI34538. J Clin Invest. 2008. PMID: 18596921 Free PMC article.
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF Jr, Amory JK, Pitteloud N, Seminara SB. Chan YM, et al. Among authors: plummer l. Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11703-8. doi: 10.1073/pnas.0903449106. Epub 2009 Jun 30. Proc Natl Acad Sci U S A. 2009. PMID: 19567835 Free PMC article.
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Raivio T, et al. Among authors: plummer l. J Clin Endocrinol Metab. 2009 Nov;94(11):4380-90. doi: 10.1210/jc.2009-0179. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820032 Free PMC article.
122 results