Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

di Audrezet, Marie-Pierre, Dabricot, Aurélia, Le Marechal, Cédric, Ferec, Claude
Pubblicazione 2008

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...

di Masson, Emmanuelle, Chen, Jian-Min, Audrézet, Marie-Pierre, Cooper, David N., Férec, Claude
Pubblicazione 2013

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process

di Munck, Anne, Delmas, Dominique, Audrézet, Marie-Pierre, Lemonnier, Lydie, Cheillan, David, Roussey, Michel
Pubblicato in J Med Screen (2017)

Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa: A Study on Population Pharmacokinetics wi...

di Leven, Cyril, Schutz, Sacha, Audrezet, Marie-Pierre, Nowak, Emmanuel, Meijer, Laurent, Montier, Tristan
Pubblicato in Pharmaceutics (2020)

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

di Scotet Virginie, Duguépéroux Ingrid, Saliou Philippe, Rault Gilles, Roussey Michel, Audrézet Marie-Pierre, Férec Claude
Pubblicazione 2012-03-01

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

di Scotet, Virginie, Duguépéroux, Ingrid, Saliou, Philippe, Rault, Gilles, Roussey, Michel, Audrézet, Marie-Pierre, Férec, Claude
Pubblicazione 2012

Novel long-range regulatory mechanisms controlling PKD2 gene expression

di Moisan, Stéphanie, Levon, Stéphanie, Cornec-Le Gall, Emilie, Le Meur, Yannick, Audrézet, Marie-Pierre, Dostie, Josée, Férec, Claude
Pubblicato in BMC Genomics (2018)

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

di Kerschner, Jenny L., Ghosh, Sujana, Paranjapye, Alekh, Cosme, Wilmel R., Audrézet, Marie-Pierre, Nakakuki, Miyuki, Ishiguro, Hiroshi, Férec, Claude, Rommens, Johanna, Harris, Ann
Pubblicato in J Mol Diagn (2019)

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

di Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Chen, Jian-Min, Hourmant, Maryvonne, Morin, Marie-Pascale, Perrichot, Régine, Charasse, Christophe, Whebe, Bassem, Renaudineau, Eric, Jousset, Philippe, Guillodo, Marie-Paule, Grall-Jezequel, Anne, Saliou, Philippe, Férec, Claude, Le Meur, Yannick
Pubblicazione 2013

Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci

di Quemener, Sylvia, Chen, Jian-Min, Chuzhanova, Nadia, Bénech, Caroline, Casals, Teresa, Macek, Milan, Bienvenu, Thierry, McDevitt, Trudi, Farrell, Philip M., Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Cutting, Garry R., Stenson, Peter D., Giteau, Karine, Audrézet, Marie-Pierre, Cooper, David N., Férec, Claude
Pubblicazione 2010

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

di Audrézet, Marie-Pierre, Corbiere, Christine, Lebbah, Said, Morinière, Vincent, Broux, Françoise, Louillet, Ferielle, Fischbach, Michel, Zaloszyc, Ariane, Cloarec, Sylvie, Merieau, Elodie, Baudouin, Véronique, Deschênes, Georges, Roussey, Gwenaelle, Maestri, Sandrine, Visconti, Chiara, Boyer, Olivia, Abel, Carine, Lahoche, Annie, Randrianaivo, Hanitra, Bessenay, Lucie, Mekahli, Djalila, Ouertani, Ines, Decramer, Stéphane, Ryckenwaert, Amélie, Cornec-Le Gall, Emilie, Salomon, Rémi, Ferec, Claude, Heidet, Laurence
Pubblicato in J Am Soc Nephrol (2016)

The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease

di Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Rousseau, Annick, Hourmant, Maryvonne, Renaudineau, Eric, Charasse, Christophe, Morin, Marie-Pascale, Moal, Marie-Christine, Dantal, Jacques, Wehbe, Bassem, Perrichot, Régine, Frouget, Thierry, Vigneau, Cécile, Potier, Jérôme, Jousset, Philippe, Guillodo, Marie-Paule, Siohan, Pascale, Terki, Nazim, Sawadogo, Théophile, Legrand, Didier, Menoyo-Calonge, Victorio, Benarbia, Seddik, Besnier, Dominique, Longuet, Hélène, Férec, Claude, Le Meur, Yannick
Pubblicato in J Am Soc Nephrol (2016)

PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis

di Gall, Emilie Cornec-Le, Audrézet, Marie-Pierre, Renaudineau, Eric, Hourmant, Maryvonne, Charasse, Christophe, Michez, Eric, Frouget, Thierry, Vigneau, Cécile, Dantal, Jacques, Siohan, Pascale, Longuet, Hélène, Gatault, Philippe, Ecotière, Laure, Bridoux, Frank, Mandart, Lise, Hanrotel-Saliou, Catherine, Stanescu, Corina, Depraetre, Pascale, Gie, Sophie, Massad, Michiel, Kersalé, Aude, Séret, Guillaume, Augusto, Jean-François, Saliou, Philippe, Maestri, Sandrine, Chen, Jian-Min, Harris, Peter C., Férec, Claude, Le Meur, Yannick
Pubblicato in Am J Kidney Dis (2017)

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

di Porath, Binu, Gainullin, Vladimir G., Cornec-Le Gall, Emilie, Dillinger, Elizabeth K., Heyer, Christina M., Hopp, Katharina, Edwards, Marie E., Madsen, Charles D., Mauritz, Sarah R., Banks, Carly J., Baheti, Saurabh, Reddy, Bharathi, Herrero, José Ignacio, Bañales, Jesús M., Hogan, Marie C., Tasic, Velibor, Watnick, Terry J., Chapman, Arlene B., Vigneau, Cécile, Lavainne, Frédéric, Audrézet, Marie-Pierre, Ferec, Claude, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.
Pubblicato in Am J Hum Genet (2016)

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

di Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saurabh, Senum, Sarah R., Arroyo, Jennifer, Madsen, Charles D., Férec, Claude, Joly, Dominique, Jouret, François, Fikri-Benbrahim, Oussamah, Charasse, Christophe, Coulibaly, Jean-Marie, Yu, Alan S., Khalili, Korosh, Pei, York, Somlo, Stefan, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.
Pubblicato in Am J Hum Genet (2018)

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

di Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Pubblicato in Nucleic Acids Res (2018)

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

di Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Paillerets, Brigitte Bressac-de, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Pubblicato in Nucleic Acids Res (2018)

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

di Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Pubblicato in Nucleic Acids Res (2020)