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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: pecheux c. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. Cazeneuve C, et al. Among authors: pecheux c. Am J Hum Genet. 1999 Jul;65(1):88-97. doi: 10.1086/302459. Am J Hum Genet. 1999. PMID: 10364520 Free PMC article.
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: pecheux c. 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.
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Mégarbane A, Naman R. Mansour I, et al. Among authors: pecheux c. Eur J Hum Genet. 2001 Jan;9(1):51-5. doi: 10.1038/sj.ejhg.5200574. Eur J Hum Genet. 2001. PMID: 11175300
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I. Bernot A, et al. Among authors: pecheux c. Hum Mol Genet. 1998 Aug;7(8):1317-25. doi: 10.1093/hmg/7.8.1317. Hum Mol Genet. 1998. PMID: 9668175
34 results