Resultados da busca - Virginie Scotet

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  1. 1
    Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation

    Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation por Virginie Scotet

    Publicado em 2003
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  2. 2
    Newborn Screening for CF across the Globe—Where Is It Worthwhile?

    Newborn Screening for CF across the Globe—Where Is It Worthwhile? por Virginie Scotet, Hector Gutierrez, Philip M. Farrell

    Publicado em 2020
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  3. 3
    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 por Virginie Scotet, C. L’Hostis, Claude Férec

    Publicado em 2020
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  4. 4
    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 por Gérald Le Gac, F. Mons, Sandrine Jacolot, Virginie Scotet, Claude Férec, Thierry Frébourg

    Publicado em 2004
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  5. 5
    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 por Virginie Scotet, I. Duguépéroux, Philippe Saliou, G. Rault, Michel Roussey, Marie‐Pierre Audrézet, Claude Férec

    Publicado em 2012
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  6. 6
    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 por Marie Pierre Audrézet, À. Munck, Virginie Scotet, Mireille Claustres, Michel Roussey, Dominique Delmas, Claude Férec, Marie Desgeorges

    Publicado em 2014
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  7. 7
    Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population

    Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population por Karen Rouault, Virginie Scotet, Sandrine Autret, François Gaucher, F. Dubrana, D. Tanguy, C. Yaacoub El Rassi, B. Fénoll, Claude Férec

    Publicado em 2010
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  8. 8
    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 gene–to the etiology of idiopathic chronic pancreatitis

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

    Publicado em 2002
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  9. 9
    Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

    Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis por Marie de Tayrac, Marie‐Paule Roth, Anne‐Marie Jouanolle, Hélène Coppin, Gérald Le Gac, Alberto Piperno, Claude Férec, Sara Pelucchi, Virginie Scotet, Edouard Bardou‐Jacquet, Martine Ropert, Régis Bouvet, Emmanuelle Génin, Jean Mosser, Yves Deugnier

    Publicado em 2014
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