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ArticlesPeer ReviewedFull Text
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-09, Vol.8 (9), p.e74728
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ArticlesPeer ReviewedFull Text
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene
Author / Creator:Boulling, Arnaud ; Le Maréchal, Cédric ; Trouvé, Pascal ; Raguénès, Odile ; Chen, Jian-Min ; Férec, Claude
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.936-942
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ArticlesPeer ReviewedFull Text
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 meta-analysis of the...
Author / Creator: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
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.567-576
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ArticlesPeer ReviewedFull Text
Determination of the relative contribution of three genes–the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor ge...
Author / Creator:Audrézet, Marie-Pierre ; Chen, Jian-Min ; Le Maréchal, Cedric ; Ruszniewski, Philippe ; Robaszkiewicz, Michel ; Raguénès, Odile ; Quéré, Isabelle ; Scotet, Virginie ; Férec, Claude
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2002-02, Vol.10 (2), p.100-106
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ArticlesPeer ReviewedFull Text
Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer
Author / Creator:Quéré, Gilles ; Descourt, Renaud ; Robinet, Gilles ; Autret, Sandrine ; Raguenes, Odile ; Fercot, Brigitte ; Alemany, Pierre ; Uguen, Arnaud ; Férec, Claude ; Quintin-Roué, Isabelle ; Le Gac, Gérald
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2016-03, Vol.16 (1), p.210-210, Article 210
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ArticlesPeer ReviewedFull Text
A 6-year survey of HFE gene test for hemochromatosis diagnosis
Author / Creator:Mura, Catherine ; Raguénes, Odile ; Scotet, Virginie ; Jacolot, Sandrine ; Mercier, Anne-Yvonne ; Férec, Claude
Publisher:United States: Elsevier Inc
Journal title:Genetics in medicine, 2005-01, Vol.7 (1), p.68-73
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ArticlesPeer ReviewedFull Text
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family: e74728
Author / Creator:Gueguen, Paul ; Rouault, Karen ; Chen, Jian-Min ; Raguenes, Odile ; Fichou, Yann ; Hardy, Elisabeth ; Gobin, Eric ; Pan-petesch, Brigitte ; Kerbiriou, Mathieu ; Trouve, Pascal
Journal title:PloS one, 2013-09, Vol.8 (9)
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ArticlesPeer ReviewedFull Text
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
Author / Creator:CHEN, JIAN-MIN ; RAGUENES, ODILE ; FEREC, CLAUDE ; DEPREZ, PIERRE H ; VERELLEN-DUMOULIN, CHRISTINE
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2000-11, Vol.37 (11), p.e36-36
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ArticlesPeer ReviewedFull Text
Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs
Author / Creator:Mura, Catherine ; Le Gac, Gérald ; Scotet, Virginie ; Raguenes, Odile ; Mercier, Anne-Yvonne ; Férec, Claude
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2001-09, Vol.38 (9), p.632-636
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ArticlesPeer ReviewedFull Text
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
Author / Creator:Audrézet, Marie-Pierre ; Chen, Jian-Min ; Raguénès, Odile ; Chuzhanova, Nadia ; Giteau, Karine ; Maréchal, Cédric Le ; Quéré, Isabelle ; Cooper, David N. ; Férec, Claude
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-04, Vol.23 (4), p.343-357
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ArticlesPeer ReviewedFull Text
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms: GROSS REARRANGEMENTS OF THE CFTR GENE
Author / Creator:Audrézet, Marie-Pierre ; Chen, Jian-Min ; Raguénès, Odile ; Chuzhanova, Nadia ; Giteau, Karine ; Maréchal, Cédric Le ; Quéré, Isabelle ; Cooper, David N. ; Férec, Claude
Journal title:Human mutation, 2004-04, Vol.23 (4), p.343-357
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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

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Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

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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 meta-analysis of the...

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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 trypsin inhibitor ge...

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Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer

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A 6-year survey of HFE gene test for hemochromatosis diagnosis

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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family: e74728

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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

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Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms: GROSS REARRANGEMENTS OF THE CFTR GENE

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