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Page 1
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr. Pitteloud N, et al. Among authors: meysing a. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6281-6. doi: 10.1073/pnas.0600962103. Epub 2006 Apr 10. Proc Natl Acad Sci U S A. 2006. PMID: 16606836 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: meysing a. 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
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
Meysing AU, Kanasaki H, Bedecarrats GY, Acierno JS Jr, Conn PM, Martin KA, Seminara SB, Hall JE, Crowley WF Jr, Kaiser UB. Meysing AU, et al. J Clin Endocrinol Metab. 2004 Jul;89(7):3189-98. doi: 10.1210/jc.2003-031808. J Clin Endocrinol Metab. 2004. PMID: 15240592