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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.
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.
Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G. Cuisset L, et al. Among authors: delpech m. Am J Hum Genet. 1999 Oct;65(4):1054-9. doi: 10.1086/302589. Am J Hum Genet. 1999. PMID: 10486324 Free PMC article.
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
[Hereditary intermittant fever].
Grateau G, Granel B, Hentgen V, Dodé C, Cuisset L, Delpech M. Grateau G, et al. Among authors: delpech m. Presse Med. 2004 Oct 9;33(17):1195-206. doi: 10.1016/s0755-4982(04)98889-6. Presse Med. 2004. PMID: 15523291 Review. French.
145 results