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Accueil > Recherche > Our research groups > Nelly Pitteloud, M.D. > Representative publications

Representatives publications

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

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. Hum Mol Genet 2012 Oct 21(19): 4314-24.

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotropic 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.   Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11524-9. Epub 2011 Jun 23.

A genetic basis for functional hypothalamic amenorrhea.  Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF Jr, Martin KA, Hall JE, Pitteloud N.  N Engl J Med. 2011 Jan 20;364(3):215-25.

Oligogenic basis of isolated gonadotropin releasing hormone deficiency.  Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N.  Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4.  

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.  J. Clin. Invest. 2008; 118 :2822-31.

Reversal of idiopathic hypogonadotropic hypogonadism.  Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Pitteloud N.  N Engl J Med. 2007; 357 :863-73.

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 WF.  J Clin Invest. 2007 Feb;117(2):457-63.