Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis von Chen, Jian–Min, Mercier, Bernard, Audrezet, Marie–Pierre, Raguenes, Odile, Quere, Isabelle, Ferec, Claude

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HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis von Mura, Catherine, Raguenes, Odile, Férec, Claude

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Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis von Chen, Jm, Piepoli Bis, A, Le Bodic, L, Ruszniewski, P, Robaszkiewicz, M, Deprez, Ph, Raguenes, O, Quere, I, Andriulli, A, Ferec, C

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The A16V signal peptide cleavage site mutation in the cationic trypsinogen gene and chronic pancreatitis von Chen, Jian-Min, Raguenes, Odile, Ferec, Claude, Deprez, Pierre H., Verellen-Dumoulin, Christine, Andriulli, Angelo

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A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis von CHEN, JIAN-MIN, RAGUENES, ODILE, FEREC, CLAUDE, DEPREZ, PIERRE H, VERELLEN-DUMOULIN, CHRISTINE

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2 Identification of two Alu insertions in the CFTR gene von Audrezet, M.P, Masson, E, Macek, M, Raguenes, O, Fercot, B, Chen, J.M, Férec, C

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Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC) : major implication... von LE MARECHAL, C, AUDREZET, M. P, QUERE, I, RAGUENES, O, LANGONNE, S, FEREC, C

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Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs von Mura, Catherine, Le Gac, Gérald, Scotet, Virginie, Raguenes, Odile, Mercier, Anne-Yvonne, Férec, Claude

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Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis von Férec, C, Raguénès, O, Salomon, R, Roche, C, Bernard, J P, Guillot, M, Quéré, I, Faure, C, Mercier, B, Audrézet, M P, Guillausseau, P J, Dupont, C, Munnich, A, Bignon, J D, Le Bodic, L

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Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis von Le Maréchal, C., Chen, J. M., Le Gall, C., Plessis, G., Chipponi, J., Chuzhanova, N. A., Raguénès, O., Férec, C.

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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and m... von Férec, Claude, Casals, Teresa, Chuzhanova, Nadia, Macek, Milan, Bienvenu, Thierry, Holubova, Andrea, King, Caitriona, McDevitt, Trudi, Castellani, Carlo, Farrell, Philip M, Sheridan, Molly, Pantaleo, Sarah-Jane, Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Torricelli, Francesca, Cutting, Garry R, Williamson, Robert, Ramos, Maria Jesus Alonso, Pignatti, Pier Franco, Raguénès, Odile, Cooper, David N, Audrézet, Marie-Pierre, Chen, Jian-Min

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms von Audrézet, Marie-Pierre, Chen, Jian-Min, Raguénès, Odile, Chuzhanova, Nadia, Giteau, Karine, Maréchal, Cédric Le, Quéré, Isabelle, Cooper, David N., Férec, Claude

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Evolution of trypsinogen activation peptides von Chen, Jian-Min, Kukor, Zoltán, Le Maréchal, Cédric, Tóth, Miklós, Tsakiris, Laurent, Raguénès, Odile, Férec, Claude, Sahin-Tóth, Miklós

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Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory... von Audrézet, Marie-Pierre, Chen, Jian-Min, Le Maréchal, Cedric, Ruszniewski, Philippe, Robaszkiewicz, Michel, Raguénès, Odile, Quéré, Isabelle, Scotet, Virginie, Férec, Claude

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Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation von Scotet, Virginie, Mérour, Marie-Christine, Mercier, Anne-Yvonne, Chanu, Brigitte, Le Faou, Thérèse, Raguénes, Odile, Le Gac, Gérald, Mura, Catherine, Nousbaum, Jean-Baptiste, Férec, Claude

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The Hereditary Pancreatitis Gene Maps to Long Arm of Chromosome 7 von Le Bodic, Louis, Bignon, Jean-Denis, Raguénès, Odile, Mercier, Bernard, Georgelin, Thierry, Schnee, Mathieu, Soulard, François, Gagne, Katia, Bonneville, Françoise, Muller, Jean-Yves, Bachner, Lucien, Férec, Claude

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No Association Between Factor V Leiden and C282Y Mutation in the Hereditary Hemochromatosis Gene von Maréchal, Cédric Le, Raguénès, Odile, Ferec, Claude

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Identification of a Novel Pancreatitis-Associated Missense Mutation, R116C, in the Human Cationic Trypsinogen Gene (PRSS1) von Le Maréchal, Cedric, Bretagne, Jean-François, Raguénès, Odile, Quéré, Isabelle, Chen, Jian-Min, Ferec, Claude

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5 Rapid screening for large rearrangement by a 2 PCR-multiplex strategy von Audrezet, M.P., Giteau, K., Raguenes, O., Kervennic, M.N., Ferec, C.

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“Loss of function” mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis von Chen, Jian-Min, Le Maréchal, Cedric, Lucas, Danièle, Raguénès, Odile, Férec, Claude

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