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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE. Tornberg J, et al. Among authors: pitteloud n. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11524-9. doi: 10.1073/pnas.1102284108. Epub 2011 Jun 23. Proc Natl Acad Sci U S A. 2011. PMID: 21700882 Free PMC article.
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF Jr, Seminara SB. Beranova M, et al. Among authors: pitteloud n. J Clin Endocrinol Metab. 2001 Apr;86(4):1580-8. doi: 10.1210/jcem.86.4.7395. J Clin Endocrinol Metab. 2001. PMID: 11297587 Free article.
Kallmann syndrome in a 47,XXX patient.
Corssmit EP, Seminara SB, Pitteloud N, Fliers E. Corssmit EP, et al. Among authors: pitteloud n. Am J Med Genet A. 2005 Nov 15;139(1):52-3. doi: 10.1002/ajmg.a.30996. Am J Med Genet A. 2005. PMID: 16222664 No abstract available.
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. 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.
146 results