Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis von Friocourt, Gaelle, Kanatani, Shigeaki, Tabata, Hidenori, Yozu, Masato, Takahashi, Takao, Antypa, Mary, Raguenes, Odile, Chelly, Jamel, Ferec, Claude, Nakajima, Kazunori, Parnavelas, John G

Volltext

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family von Guéguen, Paul, Rouault, Karen, Chen, Jian-Min, Raguénès, Odile, Fichou, Yann, Hardy, Elisabeth, Gobin, Eric, Pan-Petesch, Brigitte, Kerbiriou, Mathieu, Trouvé, Pascal, Marcorelles, Pascale, Abgrall, Jean-Francois, Le Maréchal, Cédric, Férec, Claude

Volltext

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene von Boulling, Arnaud, Le Maréchal, Cédric, Trouvé, Pascal, Raguénès, Odile, Chen, Jian-Min, Férec, Claude

Volltext

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

Volltext

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

Volltext

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

Volltext

Detection of two Alu insertions in the CFTR gene von Chen, Jian-Min, Masson, Emmanuelle, Macek, Milan, Raguénès, Odile, Piskackova, Tereza, Fercot, Brigitte, Fila, Libor, Cooper, David N, Audrézet, Marie-Pierre, Férec, Claude

Volltext

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

Volltext

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

Volltext

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer von Quéré, Gilles, Descourt, Renaud, Robinet, Gilles, Autret, Sandrine, Raguenes, Odile, Fercot, Brigitte, Alemany, Pierre, Uguen, Arnaud, Férec, Claude, Quintin-Roué, Isabelle, Le Gac, Gérald

Volltext

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

Volltext

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance li... von Le Maréchal, C, Chen, J M, Quéré, I, Raguénès, O, Férec, C, Auroux, J

Volltext

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family: e74728 von Gueguen, Paul, Rouault, Karen, Chen, Jian-Min, Raguenes, Odile, Fichou, Yann, Hardy, Elisabeth, Gobin, Eric, Pan-petesch, Brigitte, Kerbiriou, Mathieu, Trouve, Pascal

Volltext

A 6-year survey of HFE gene test for hemochromatosis diagnosis von Mura, Catherine, Raguénes, Odile, Scotet, Virginie, Jacolot, Sandrine, Mercier, Anne-Yvonne, Férec, Claude

Volltext

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

Volltext

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

Volltext

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

Volltext

Phenotype-genotype correlation in haemochromatosis subjects von MURA, C, NOUSBAUM, J.-B, VERGER, P, MOALIC, M.-T, RAGUENES, O, MERCIER, A.-Y, FEREC, C

Volltext

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

Volltext

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

Volltext