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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: pecheux c. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G; French Heraditary Recurrent Inflammatory Disorder Study Group. Dodé C, et al. Among authors: pecheux c. Arthritis Rheum. 2002 Aug;46(8):2181-8. doi: 10.1002/art.10429. Arthritis Rheum. 2002. PMID: 12209523 Free article.
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: pecheux c. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A. Krahn M, et al. Among authors: pecheux c. Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. Clin Genet. 2011. PMID: 21204801 No abstract available.
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N; Calpain Study Group of the French LGMD Network. Krahn M, et al. Among authors: pecheux c. Clin Genet. 2006 May;69(5):444-9. doi: 10.1111/j.1399-0004.2006.00603.x. Clin Genet. 2006. PMID: 16650086 No abstract available.
34 results