Schwanzel-Fukuda M, Bick D, Pfaff DW: Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res Mol Brain Res. 1989, 6: 311-326.
Article
CAS
PubMed
Google Scholar
Cariboni A, Maggi R: Kallmann's syndrome, a neuronal migration defect. Cell Mol Life Sci. 2006, 63: 2512-2526. 10.1007/s00018-005-5604-3.
Article
CAS
PubMed
Google Scholar
Teixeira L, Guimiot F, Dode C, Fallet-Bianco C, Millar RP, Delezoide AL, Hardelin JP: Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest. 2010, 120: 3668-3672. 10.1172/JCI43699.
Article
PubMed Central
CAS
PubMed
Google Scholar
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Pitteloud N: Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med. 2007, 357: 863-873. 10.1056/NEJMoa066494.
Article
CAS
PubMed
Google Scholar
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: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2009, 94: 4380-4390. 10.1210/jc.2009-0179.
Article
PubMed Central
CAS
PubMed
Google Scholar
Seminara SB, Hayes FJ, Crowley WF: Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998, 19: 521-539. 10.1210/er.19.5.521.
CAS
PubMed
Google Scholar
Jones JR, Kemmann E: Olfacto-genital dysplasia in the female. Obstet Gynecol Annu. 1976, 5: 443-466.
CAS
PubMed
Google Scholar
Sedlmeyer IL, Palmert MR: Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002, 87: 1613-1620. 10.1210/jc.87.4.1613.
Article
CAS
PubMed
Google Scholar
Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Vallejo M: The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001, 86: 1532-1538. 10.1210/jc.86.4.1532.
CAS
PubMed
Google Scholar
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: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007, 117: 457-463. 10.1172/JCI29884.
Article
PubMed Central
CAS
PubMed
Google Scholar
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: Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest. 2008, 118: 2822-2831. 10.1172/JCI34538.
Article
PubMed Central
CAS
PubMed
Google Scholar
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, Pitteloud N: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA. 2010, 107: 15140-15144. 10.1073/pnas.1009622107.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP: Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2006, 2: e175. 10.1371/journal.pgen.0020175.
Article
PubMed Central
PubMed
Google Scholar
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG, Camerino G, Ballabio A: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991, 353: 529-536. 10.1038/353529a0.
Article
CAS
PubMed
Google Scholar
Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Dlemarre-Van Der Wall H, Lutfalla G, Weissenbach J, Petit C: The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 1991, 67: 423-435. 10.1016/0092-8674(91)90193-3.
Article
CAS
PubMed
Google Scholar
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003, 33: 463-465. 10.1038/ng1122.
Article
CAS
PubMed
Google Scholar
Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY, Crowley WF: Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA. 2007, 104: 17447-17452. 10.1073/pnas.0707173104.
Article
PubMed Central
CAS
PubMed
Google Scholar
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: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2010, 87: 465-479. 10.1016/j.ajhg.2010.08.018.
Article
PubMed Central
CAS
PubMed
Google Scholar
Pitteloud N, Acierno JS, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF: Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab. 2005, 90: 1317-1322.
Article
CAS
PubMed
Google Scholar
Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC: Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. J Clin Endocrinol Metab. 2006, 91: 4006-4012. 10.1210/jc.2005-2793.
Article
CAS
PubMed
Google Scholar
Pitteloud N, Acierno JS, 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: Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA. 2006, 103: 6281-6286. 10.1073/pnas.0600962103.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008, 83: 511-519. 10.1016/j.ajhg.2008.09.005.
Article
PubMed Central
CAS
PubMed
Google Scholar
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009, 75: 65-71. 10.1111/j.1399-0004.2008.01107.x.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bianco SD, Kaiser UB: The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol. 2009, 5: 569-576. 10.1038/nrendo.2009.177.
Article
PubMed Central
CAS
PubMed
Google Scholar
Semple RK, Topaloglu AK: The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions. Clin Endocrinol (Oxf). 2010, 72: 427-435. 10.1111/j.1365-2265.2009.03687.x.
Article
CAS
Google Scholar
Miura K, Acierno JS, Seminara SB: Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet. 2004, 49: 265-268. 10.1007/s10038-004-0137-4.
Article
CAS
PubMed
Google Scholar
Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H: A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. Hum Reprod. 2010, 25: 1076-1080. 10.1093/humrep/deq006.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE: Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat. 2008, 29: 6-13. 10.1002/humu.20654.
Article
CAS
PubMed
Google Scholar
Cheng A, McDonald NA, Connolly CN: Cell surface expression of 5-hydroxytryptamine type 3 receptors is promoted by RIC-3. J Biol Chem. 2005, 280: 22502-22507. 10.1074/jbc.M414341200.
Article
CAS
PubMed
Google Scholar
Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002, 30: 3894-3900. 10.1093/nar/gkf493.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wincent J, Holmberg E, Stromland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J: CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet. 2008, 74: 31-38. 10.1111/j.1399-0004.2008.01014.x.
Article
CAS
PubMed
Google Scholar
Wincent J, Schulze A, Schoumans J: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 2009, 52: 271-272. 10.1016/j.ejmg.2009.02.005.
Article
PubMed
Google Scholar
Newberry EP, Boudreaux JM, Towler DA: The rat osteocalcin fibroblast growth factor (FGF)-responsive element: an okadaic acid-sensitive, FGF-selective transcriptional response motif. Mol Endocrinol. 1996, 10: 1029-1040. 10.1210/me.10.8.1029.
CAS
PubMed
Google Scholar
Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005, 133A: 306-308. 10.1002/ajmg.a.30559.
Article
PubMed
Google Scholar
Fromantin M, Gineste J, Didier A, Rouvier J: Impuberism and hypogonadism at induction into military service. Statistical study. Probl Actuels Endocrinol Nutr. 1973, 16: 179-199.
CAS
PubMed
Google Scholar
Filippi G: Klinefelter's syndrome in Sardinia. Clinical report of 265 hypogonadic males detected at the time of military check-up. Clin Genet. 1986, 30: 276-284.
Article
CAS
PubMed
Google Scholar
Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Pinero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N, Jacquemont S, Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M, Murat A, Bouchard P, Hardelin JP, Dode C, Young J: A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab. 2010, 95: 659-669. 10.1210/jc.2009-0843.
Article
CAS
PubMed
Google Scholar
Laitinen EM, Tommiska J, Dunkel L, Sankilampi U, Vaaralahti K, Raivio T: Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer. Fertil Steril. 2010, 93: 2074.e13-2074.e16. 10.1016/j.fertnstert.2009.11.013.
Article
Google Scholar
Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dode C, Mohammadi M, Marazita ML, Murray JC: Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci USA. 2007, 104: 4512-4517. 10.1073/pnas.0607956104.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dode C, Hardelin JP: Kallmann syndrome. Eur J Hum Genet. 2009, 17: 139-146. 10.1038/ejhg.2008.206.
Article
PubMed Central
CAS
PubMed
Google Scholar
Olsen SK, Ibrahimi OA, Raucci A, Zhang F, Eliseenkova AV, Yayon A, Basilico C, Linhardt RJ, Schlessinger J, Mohammadi M: Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity. Proc Natl Acad Sci USA. 2004, 101: 935-940. 10.1073/pnas.0307287101.
Article
PubMed Central
CAS
PubMed
Google Scholar
Groth C, Lardelli M: The structure and function of vertebrate fibroblast growth factor receptor 1. Int J Dev Biol. 2002, 46: 393-400.
CAS
PubMed
Google Scholar
Soderlund D, Canto P, Mendez JP: Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. J Clin Endocrinol Metab. 2002, 87: 2589-2592. 10.1210/jc.87.6.2589.
Article
CAS
PubMed
Google Scholar
Hu Y, Sun Z, Eaton JT, Bouloux PM, Perkins SJ: Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling. J Mol Biol. 2005, 350: 553-570. 10.1016/j.jmb.2005.04.031.
Article
CAS
PubMed
Google Scholar
Feret H, McDonald-McGinn DM, Santani A, Zackai EH: Expanding the Phenotypic Overlap Between CHARGE and Kallmann Syndromes due to CHD7 Mutations. (Abstract #1671). Presented at the 60th Annual Meeting of The American Society of Human Genetics, November 3, 2010, Washington, DC.
Google Scholar
Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC: Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab. 2008, 93: 4113-4118. 10.1210/jc.2008-0958.
Article
CAS
PubMed
Google Scholar
de la Chapelle A: Disease gene mapping in isolated human populations: the example of Finland. J Med Genet. 1993, 30: 857-865. 10.1136/jmg.30.10.857.
Article
PubMed Central
CAS
PubMed
Google Scholar
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