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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, García-Piñero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dodé C. Hanchate NK, et al. Among authors: hardelin jp. PLoS Genet. 2012 Aug;8(8):e1002896. doi: 10.1371/journal.pgen.1002896. Epub 2012 Aug 23. PLoS Genet. 2012. PMID: 22927827 Free PMC article.
Kallmann syndrome.
Dodé C, Hardelin JP. Dodé C, et al. Among authors: hardelin jp. Eur J Hum Genet. 2009 Feb;17(2):139-46. doi: 10.1038/ejhg.2008.206. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985070 Free PMC article.
[Kallmann De Morsier syndrome: FGF-signaling insufficiency?].
Dodé C, Hardelin JP. Dodé C, et al. Among authors: hardelin jp. Med Sci (Paris). 2004 Aug-Sep;20(8-9):793-8. doi: 10.1051/medsci/2004208-9793. Med Sci (Paris). 2004. PMID: 15361347 Free article. Review. French.
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé 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. Dodé C, et al. Among authors: hardelin jp. PLoS Genet. 2006 Oct 20;2(10):e175. doi: 10.1371/journal.pgen.0020175. Epub 2006 Sep 1. PLoS Genet. 2006. PMID: 17054399 Free PMC article.
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz FJ, Young J, Bertherat J, Marlin S, Goossens M, Hardelin JP, Dodé C, Bondurand N. Pingault V, et al. Among authors: hardelin jp. Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024. Am J Hum Genet. 2013. PMID: 23643381 Free PMC article.
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C. Marcos S, et al. Among authors: hardelin jp. J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. J Clin Endocrinol Metab. 2014. PMID: 25077900
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Boehm U, et al. Among authors: hardelin jp. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Nat Rev Endocrinol. 2015. PMID: 26194704 Review.
91 results