Tissue-Specific Regulation of CFTR Gene Expression
Blotas, Clara, Férec, Claude, Moisan, Stéphanie
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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Cystic Fibrosis: A Journey through Time and Hope
Trouvé, Pascal, Saint Pierre, Aude, Férec, Claude
Published in International journal of molecular sciences (04.09.2024)
Published in International journal of molecular sciences (04.09.2024)
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Type of PKD1 Mutation Influences Renal Outcome in ADPKD
LE GALL, Emilie Cornec, AUDREZET, Marie-Pierre, GUILLODO, Marie-Paule, GRALL-JEZEQUEL, Anne, SALIOU, Philippe, FEREC, Claude, LE MEUR, Yannick, CHEN, Jian-Min, HOURMANT, Maryvonne, MORIN, Marie-Pascale, PERRICHOT, Régine, CHARASSE, Christophe, WHEBE, Bassem, RENAUDINEAU, Eric, JOUSSET, Philippe
Published in Journal of the American Society of Nephrology (01.06.2013)
Published in Journal of the American Society of Nephrology (01.06.2013)
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Journal Article
Gene conversion: mechanisms, evolution and human disease
Chen, Jian-Min, Patrinos, George P, Cooper, David N, Chuzhanova, Nadia, Férec, Claude
Published in Nature reviews. Genetics (01.10.2007)
Published in Nature reviews. Genetics (01.10.2007)
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Journal Article
Chronic pancreatitis: genetics and pathogenesis
Chen, Jian-Min, Férec, Claude
Published in Annual review of genomics and human genetics (01.09.2009)
Published in Annual review of genomics and human genetics (01.09.2009)
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Journal Article
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation
Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette
Published in PloS one (24.04.2023)
Published in PloS one (24.04.2023)
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Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
Masson, Emmanuelle, Maestri, Sandrine, Bordeau, Valérie, Cooper, David N., Férec, Claude, Chen, Jian-Min
Published in American journal of human genetics (03.10.2024)
Published in American journal of human genetics (03.10.2024)
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Journal Article
Expanding ACMG variant classification guidelines into a general framework
Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N., Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Published in Human genomics (16.08.2022)
Published in Human genomics (16.08.2022)
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Strengths and limitations of AlphaMissense in CPA1 missense variant classification
Wang, Ya-Hui, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Zou, Wen-Bin, Chen, Jian-Min
Published in Gut (12.03.2024)
Published in Gut (12.03.2024)
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Journal Article
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease
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
Published in Journal of the American Society of Nephrology (01.03.2016)
Published in Journal of the American Society of Nephrology (01.03.2016)
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
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, 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
Published in Nucleic acids research (06.09.2018)
Published in Nucleic acids research (06.09.2018)
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Evaluation of aminopyrrolidine amide to improve chloride transport in CFTR-defective cells
Huguet, Florentin, Guellec, Julie, Kerbiriou, Mathieu, Gandy, Maxime, Thomas, Johan, Férec, Claude, Benz, Nathalie, Trouvé, Pascal
Published in Bioorganic & medicinal chemistry letters (15.09.2022)
Published in Bioorganic & medicinal chemistry letters (15.09.2022)
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Journal Article
Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation
Bernarde, Cédric, Keravec, Marlène, Mounier, Jérôme, Gouriou, Stéphanie, Rault, Gilles, Férec, Claude, Barbier, Georges, Héry-Arnaud, Geneviève
Published in PloS one (08.04.2015)
Published in PloS one (08.04.2015)
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Journal Article
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis
Masamune, Atsushi, Kotani, Hiroshi, Sörgel, Franziska Lena, Chen, Jian-Min, Hamada, Shin, Sakaguchi, Reiko, Masson, Emmanuelle, Nakano, Eriko, Kakuta, Yoichi, Niihori, Tetsuya, Funayama, Ryo, Shirota, Matsuyuki, Hirano, Tatsuya, Kawamoto, Tetsuya, Hosokoshi, Atsuki, Kume, Kiyoshi, Unger, Lara, Ewers, Maren, Laumen, Helmut, Bugert, Peter, Mori, Masayuki X., Tsvilovskyy, Volodymyr, Weißgerber, Petra, Kriebs, Ulrich, Fecher-Trost, Claudia, Freichel, Marc, Diakopoulos, Kalliope N., Berninger, Alexandra, Lesina, Marina, Ishii, Kentaro, Itoi, Takao, Ikeura, Tsukasa, Okazaki, Kazuichi, Kaune, Tom, Rosendahl, Jonas, Nagasaki, Masao, Uezono, Yasuhito, Algül, Hana, Nakayama, Keiko, Matsubara, Yoichi, Aoki, Yoko, Férec, Claude, Mori, Yasuo, Witt, Heiko, Shimosegawa, Tooru
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2020)
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Journal Article
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
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.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Web Resource
Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On
Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Le Meur, Yannick, Chen, Jian-Min, Férec, Claude
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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