Zoekresultaten - Claude Férec

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  1. 1
    The molecular genetics of haemochromatosis

    The molecular genetics of haemochromatosis door Gérald Le Gac, Claude Férec

    Gepubliceerd in 2005
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  2. 2
    Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens

    Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens door Marc De Braekeleer, Claude Férec

    Gepubliceerd in 1996
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  3. 3
    Assessing the Disease-Liability of Mutations in CFTR

    Assessing the Disease-Liability of Mutations in CFTR door Claude Férec, Garry R. Cutting

    Gepubliceerd in 2012
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  4. 4
    The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery

    The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery door Virginie Scotet, C. L’Hostis, Claude Férec

    Gepubliceerd in 2020
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  5. 5
    Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6

    Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6 door Mathieu Kerbiriou, Marie-Anne Le Drévo, Claude Férec, Pascal Trouvé

    Gepubliceerd in 2007
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  6. 6
    DNA Damage-induced Down-regulation of Human Cdc25C and Cdc2 Is Mediated by Cooperation between p53 and Maintenance DNA (Cytosine-5) Methyltransferase 1

    DNA Damage-induced Down-regulation of Human Cdc25C and Cdc2 Is Mediated by Cooperation between p53 and Maintenance DNA (Cytosine-5) Methyltransferase 1 door Gérald Le Gac, Pierre‐Olivier Estève, Claude Férec, Sriharsa Pradhan

    Gepubliceerd in 2006
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  7. 7
    Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the <b><i>ACKR1</i></b> Gene Encoding the Duffy Antigens

    Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the <b><i>ACKR1</i></b> Gene Encoding the Duffy Antigens door Yann Fichou, Isabelle Berlivet, Gaëlle Richard, Christophe Tournamille, Lilian Castilho, Claude Férec

    Gepubliceerd in 2019
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  8. 8
    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent

    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent door Gérald Le Gac, F. Mons, Sandrine Jacolot, Virginie Scotet, Claude Férec, Thierry Frébourg

    Gepubliceerd in 2004
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  9. 9
    A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients

    A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young Fren... door Emmanuelle Masson, Jian‐Min Chen, M.‐P. Audrézet, D.N. Cooper, Claude Férec

    Gepubliceerd in 2013
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  10. 10
    Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

    Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage door Jian‐Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec, D.N. Cooper

    Gepubliceerd in 2005
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  11. 11
    Complex gene rearrangements caused by serial replication slippage

    Complex gene rearrangements caused by serial replication slippage door Jian‐Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec, D.N. Cooper

    Gepubliceerd in 2005
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  12. 12
    Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

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

    Gepubliceerd in 2007
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  13. 13
    Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis

    Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis door Jian‐Min Chen, Bernard Mercier, Marie‐Pierre Audrézet, Odile Raguénès, I. Quéré, Claude Férec

    Gepubliceerd in 2001
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  14. 14
    Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer

    Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer door Qiwen Wang, Wen‐Bin Zou, Emmanuelle Masson, Claude Férec, Zhuan Liao, Jian‐Min Chen

    Gepubliceerd in 2025
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  15. 15
    Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

    Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On door Émilie Cornec-Le Gall, Marie‐Pierre Audrézet, Yannick Le Meur, Jian‐Min Chen, Claude Férec

    Gepubliceerd in 2014
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  16. 16
    Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

    Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France door Virginie Scotet, I. Duguépéroux, Philippe Saliou, G. Rault, Michel Roussey, Marie‐Pierre Audrézet, Claude Férec

    Gepubliceerd in 2012
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  17. 17
    Impact of the CFTR-Potentiator Ivacaftor on Airway Microbiota in Cystic Fibrosis Patients Carrying A G551D Mutation

    Impact of the CFTR-Potentiator Ivacaftor on Airway Microbiota in Cystic Fibrosis Patients Carrying A G551D Mutation door Cédric Bernarde, Marlène Keravec, Jérôme Mounier, S. Gouriou, G. Rault, Claude Férec, Georges Barbier, Geneviève Héry-Arnaud

    Gepubliceerd in 2015
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  18. 18
    On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

    On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherit... door D.N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vásquez, Hildegard Kehrer‐Sawatzki, Jian‐Min Chen

    Gepubliceerd in 2011
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  19. 19
    Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

    Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy door Marie Pierre Audrézet, À. Munck, Virginie Scotet, Mireille Claustres, Michel Roussey, Dominique Delmas, Claude Férec, Marie Desgeorges

    Gepubliceerd in 2014
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  20. 20
    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis

    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis door Cédric Le Maréchal, Jian‐Min Chen, C. Gall, Ghislaine Plessis, J Chipponi, Nadia Chuzhanova, Odile Raguénès, Claude Férec

    Gepubliceerd in 2004
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