Resultados de búsqueda - Marie‐Pierre Audrézet

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  1. 1
    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 por Jian‐Min Chen, Bernard Mercier, Marie‐Pierre Audrézet, Odile Raguénès, I. Quéré, Claude Férec

    Publicado 2001
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  2. 2
    Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

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

    Publicado 2014
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  3. 3
    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 2012
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  4. 4
    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 2014
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  5. 5
    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 2002
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  6. 6
    Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

    Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients por Marie‐Pierre Audrézet, Émilie Cornec-Le Gall, Jian‐Min Chen, Sylvia Redon, I. Quéré, J. Creff, Caroline Bénech, Sandrine Maestri, Yannick Le Meur, Claude Férec

    Publicado 2012
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  7. 7
    Polycystin deficiency induces dopamine-reversible alterations in flow-mediated dilatation and vascular nitric oxide release in humans

    Polycystin deficiency induces dopamine-reversible alterations in flow-mediated dilatation and vascular nitric oxide release in humans por Aurélien Lorthioir, Robinson Joannidès, Isabelle Rémy‐Jouet, Caroline Fréguin-Bouilland, Michèle Iacob, Clothilde Roche, Christelle Monteil, Danièle Lucas, Sylvanie Renet, Marie‐Pierre Audrézet, M. Godin, Vincent Richard, Christian Thuillez, Dominique Guerrot, Jérémy Bellien

    Publicado 2014
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  8. 8
    Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

    Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene por Anne Bergougnoux, Karine Delétang, A. Pommier, Jessica Varilh, Florence Houriez, J.P. Altiéri, M. Kœnig, Claude Férec, Mireille Claustres, G. Lalau, Thierry Bienvenu, Marie‐Pierre Audrézet, A. Pagin, E. Girodon, Caroline Raynal, Magali Taulan‐Cadars

    Publicado 2018
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  9. 9
    Type of PKD1 Mutation Influences Renal Outcome in ADPKD

    Type of PKD1 Mutation Influences Renal Outcome in ADPKD por Émilie Cornec-Le Gall, Marie‐Pierre Audrézet, Jian‐Min Chen, Maryvonne Hourmant, Marie-Pascale Morin, Régine Perrichot, Christophe Charasse, B. Whebe, E. Renaudineau, Philippe Jousset, Marie-Paule Guillodo, Anne Grall-Jezequel, Philippe Saliou, Claude Férec, Yannick Le Meur

    Publicado 2013
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  10. 10
    Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

    Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease por Vinh Toan Huynh, Marie‐Pierre Audrézet, John A. Sayer, Albert Ong, Siriane Lefèvre, Valoris Le Brun, Aurore Després, Sarah R. Senum, Fouad T. Chebib, Miguel Barroso‐Gil, Chirag Patel, Andrew Mallett, Himanshu Goel, Amali Mallawaarachchi, Albertien M. van Eerde, Eléonore Ponlot, Marc Kribs, Yannick Le Meur, Peter C. Harris, Émilie Cornec-Le Gall

    Publicado 2020
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  11. 11
    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants por Mireille Claustres, C. Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, I. Duguépéroux, Claude Férec, G. Lalau, A. Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Éric Bieth, Marie‐Claire Malinge, Marie‐Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, C. Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil

    Publicado 2017
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  12. 12
    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 underlying mechanisms

    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... por Claude Férec, Teresa Casals, Nadia Chuzhanova, Milan Maçek, Thierry Bienvenu, A. Holubová, Caitriona King, Trudi McDevitt, Carlo Castellani, Philip M. Farrell, Molly B. Sheridan, Sarah‐Jane Pantaleo, Ourida Loumi, Taïeb Messaoud, Harry Cuppens, Francesca Torricelli, Garry R. Cutting, Robert Williamson, Maria Jesus Alonso Ramos, Pier Franco Pignatti, Odile Raguénès, D.N. Cooper, Marie‐Pierre Audrézet, Jian‐Min Chen

    Publicado 2006
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  13. 13
    The PROPKD Score

    The PROPKD Score por Émilie Cornec-Le Gall, Marie‐Pierre Audrézet, Annick Rousseau, Maryvonne Hourmant, E. Renaudineau, Christophe Charasse, Marie-Pascale Morin, Marie‐Christine Moal, Jacques Dantal, Bassem Wehbe, Régine Perrichot, T. Frouget, Cécile Vigneau, J. Potier, Philippe Jousset, Marie-Paule Guillodo, P. Siohan, Nazim Terki, T. Sawadogo, Didier Legrand, Victorio Menoyo-Calonge, Seddik Benarbia, Dominique Besnier, Hélène Longuet, Claude Férec, Yannick Le Meur

    Publicado 2015
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  14. 14
    Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

    Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease por Marie‐Pierre Audrézet, Christine Corbiere, Saïd Lebbah, Vincent Morinière, Françoise Broux, Férielle Louillet, Michel Fischbach, Ariane Zaloszyc, Sylvie Cloarec, Élodie Merieau, Véronique Baudouin, Georges Deschênes, G. Roussey, Sandrine Maestri, Chiara Visconti, Olivia Boyer, Carine Abel, Annie Lahoche, Hanitra Randrianaivo, Lucie Bessenay, Djalila Mekahli, Inès Ouertani, Stéphane Decramer, Amélie Ryckenwaert, Émilie Cornec-Le Gall, Rémi Salomon, Claude Férec, Laurence Heidet

    Publicado 2015
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  15. 15
    Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

    Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis por Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, B. Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Després, Gabrielle Duneau, Marie Matignon, Anaïs Poyet, Noémie Jourde‐Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Séret, Miguel Barroso‐Gil, Coralie Bingham, Rodney D. Gilbert, Yannick Le Meur, Marie‐Pierre Audrézet, Émilie Cornec-Le Gall

    Publicado 2022
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  16. 16
    Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

    Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease por Émilie Cornec-Le Gall, Rory J. Olson, Whitney Besse, Christina M. Heyer, Vladimir G. Gainullin, Jessica M. Smith, Marie‐Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R. Senum, Jennifer Arroyo, Charles D. Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S.L. Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E. Torres, Peter C. Harris

    Publicado 2018
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  17. 17
    Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

    Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype por Sarah R. Senum, Ying Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana Gregory, Ruxandra Neatu, Timothy L. Kline, Marie‐Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry Watnick, Dorien J.M. Peters, Albert Ong, Peter J. Conlon, Ronald D. Perrone, Émilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Peter C. Harris

    Publicado 2021
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  18. 18
    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort por Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Marie‐Pierre Audrézet, Virginie Caux‐Moncoutier, Sandrine M. Caputo, Nadia Boutry‐Kryza, Mélanie Léoné, Sylvie Mazoyer, Françoise Bonnet‐Dorion, Nicolas Sévenet, Marine Guillaud-Bataille, Étienne Rouleau, Brigitte Bressac–de Paillerets, Barbara Wappenschmidt, Maria Rossing, Danielle Muller, Violaine Bourdon, Françoise Révillon, Michael T. Parsons, Antoine Rousselin, Grégoire Davy, G Castelain, Laurent Castéra, Joanna Sokołowska, Florence Coulet, Capucine Delnatte, Claude Férec, Amanda B. Spurdle, Alexandra Martins, Sophie Krieger, Claude Houdayer

    Publicado 2018
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  19. 19
    PFMG2025–integrating genomic medicine into the national healthcare system in France

    PFMG2025–integrating genomic medicine into the national healthcare system in France por Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan

    Publicado 2025
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