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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux 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. Dodé C, et al. Among authors: levilliers j. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
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: levilliers j. 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.
Kallmann syndrome.
Hardelin JP, Soussi-Yanicostas N, Ardouin O, Levilliers J, Petit C. Hardelin JP, et al. Among authors: levilliers j. Adv Otorhinolaryngol. 2000;56:268-74. doi: 10.1159/000059073. Adv Otorhinolaryngol. 2000. PMID: 10868244 Review. No abstract available.
Xp22.3 deletions in isolated familial Kallmann's syndrome.
Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, Schaison G. Hardelin JP, et al. Among authors: levilliers j. J Clin Endocrinol Metab. 1993 Apr;76(4):827-31. doi: 10.1210/jcem.76.4.8473391. J Clin Endocrinol Metab. 1993. PMID: 8473391
Molecular genetics of hearing loss.
Petit C, Levilliers J, Hardelin JP. Petit C, et al. Among authors: levilliers j. Annu Rev Genet. 2001;35:589-646. doi: 10.1146/annurev.genet.35.102401.091224. Annu Rev Genet. 2001. PMID: 11700295 Review.
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al. Hardelin JP, et al. Among authors: levilliers j. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4. doi: 10.1073/pnas.89.17.8190. Proc Natl Acad Sci U S A. 1992. PMID: 1518845 Free PMC article.
55 results