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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: delpech m. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dodé C. Albuisson J, et al. Among authors: delpech m. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412
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: delpech m. 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.
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G. Dodé C, et al. Among authors: delpech m. Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25. Am J Hum Genet. 2002. PMID: 11992256 Free PMC article.
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Dodé C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, Kottler ML, Chabrolle C, Gancel A, François I, Devriendt K, Wolczynski S, Pugeat M, Pineiro-Garcia A, Murat A, Bouchard P, Young J, Delpech M, Hardelin JP. Dodé C, et al. Among authors: delpech m. Hum Mutat. 2007 Jan;28(1):97-8. doi: 10.1002/humu.9470. Hum Mutat. 2007. PMID: 17154279
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
Dodé C, Papo T, Fieschi C, Pêcheux C, Dion E, Picard F, Godeau P, Bienvenu J, Piette JC, Delpech M, Grateau G. Dodé C, et al. Among authors: delpech m. Arthritis Rheum. 2000 Jul;43(7):1535-42. doi: 10.1002/1529-0131(200007)43:7<1535::AID-ANR18>3.0.CO;2-C. Arthritis Rheum. 2000. PMID: 10902757 Free article.
145 results