Assessing the Disease-Liability of Mutations in CFTR
Ferec, Claude, Cutting, Garry R
Published in Cold Spring Harbor perspectives in medicine (01.12.2012)
Published in Cold Spring Harbor perspectives in medicine (01.12.2012)
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Recommendations for the classification of diseases as CFTR-related disorders
Bombieri, C, Claustres, M, De Boeck, K, Derichs, N, Dodge, J, Girodon, E, Sermet, I, Schwarz, M, Tzetis, M, Wilschanski, M, Bareil, C, Bilton, D, Castellani, C, Cuppens, H, Cutting, G.R, Drevínek, P, Farrell, P, Elborn, J.S, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, D.N, Southern, K.W, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, P.F, Ferec, C
Published in Journal of cystic fibrosis (01.06.2011)
Published in Journal of cystic fibrosis (01.06.2011)
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Conference Proceeding
Overexpression of certain transient receptor potential and Orai channels in prostate cancer is associated with decreased risk of systemic recurrence after radical prostatectomy
Perrouin‐Verbe, M. A., Schoentgen, N., Talagas, M., Garlantezec, R., Uguen, A., Doucet, L., Rosec, S., Marcorelles, P., Potier‐Cartereau, M., Vandier, C., Ferec, C., Fromont, G., Fournier, G., Valeri, A., Mignen, O.
Published in The Prostate (01.12.2019)
Published in The Prostate (01.12.2019)
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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
Callebaut, Isabelle, Joubrel, Rozenn, Pissard, Serge, Kannengiesser, Caroline, Gérolami, Victoria, Ged, Cécile, Cadet, Estelle, Cartault, François, Ka, Chandran, Gourlaouen, Isabelle, Gourhant, Lénaick, Oudin, Claire, Goossens, Michel, Grandchamp, Bernard, De Verneuil, Hubert, Rochette, Jacques, Férec, Claude, Le Gac, Gérald
Published in Human molecular genetics (01.09.2014)
Published in Human molecular genetics (01.09.2014)
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Ultra-rare variants in the TRPV6 gene cause autosomal dominant chronic pancreatitis
Masson, E., Chen, J., Rebours, V., Le Rhun, M., Audin, H., Lachaux, A., Caumont, B., Lorenzo, D., Fron, M., Billiemaz, K., Besnard, R., Buscail, L., Ferec, C.
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2020)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2020)
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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, M., Fergelot, P., Claustres, M., Taulan-Cadars, M., Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, C.
Published in Journal of cystic fibrosis (01.05.2023)
Published in Journal of cystic fibrosis (01.05.2023)
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3 How to improve the efficiency of Next Generation Sequencing in the molecular diagnosis of cystic fibrosis
Audrézet, M.-P, Le Millier, K, Kervennic, M.N, Ferec, C
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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The natural history of hereditary pancreatitis: a national series
Rebours, V, Boutron-Ruault, M-C, Schnee, M, Férec, C, Le Maréchal, C, Hentic, O, Maire, F, Hammel, P, Ruszniewski, P, Lévy, P
Published in Gut (01.01.2009)
Published in Gut (01.01.2009)
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Genetics of cystic fibrosis: Basics
Férec, C., Scotet, V.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
Zielenski, Julian, Bal, Jerzy, Cutting, Garry R, Macek, Milan, Palacio, Ana, Ferec, Claude, Larriba, Sara, Marshall, Bruce C, Krebsova, Alice, Markiewicz, Danuta, Casals, Teresa, Claustres, Mirreille, Durie, Peter, Tsui, Lap-Chee, Corey, Mary, Langfelder-Schwind, Elinor, Rozmahel, Richard, DeCelie-Germana, J, Nowakowska, Aleksandra, Mercier, Bernard, Estivill, Xavier, Aznarez, Isabel
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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CFTR mutations in the Algerian population
Loumi, O, Ferec, C, Mercier, B, Creff, J, Fercot, B, Denine, R, Grangaud, J.P
Published in Journal of cystic fibrosis (01.01.2008)
Published in Journal of cystic fibrosis (01.01.2008)
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CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma
Raynal, C., Girodon, E., Audrezet, M.P., Cabet, F., Pagin, A., Reboul, M.P., Dufernez, F., Fergelot, P., Bergougnoux, A., Fanen, P., Ferec, C., Bienvenu, T.
Published in British journal of dermatology (1951) (01.11.2019)
Published in British journal of dermatology (1951) (01.11.2019)
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Function and regulation of TRPM7, as well as intracellular magnesium content, are altered in cells expressing ΔF508-CFTR and G551D-CFTR
Huguet, F., Calvez, M. L., Benz, N., Le Hir, S., Mignen, O., Buscaglia, P., Horgen, F. D., Férec, C., Kerbiriou, M., Trouvé, P.
Published in Cellular and molecular life sciences : CMLS (01.09.2016)
Published in Cellular and molecular life sciences : CMLS (01.09.2016)
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Penetrance is a critical parameter for assessing the disease liability of CFTR variants
Boussaroque, A., Audrézet, M.-P., Raynal, C., Sermet-Gaudelus, I., Bienvenu, T., Férec, C., Bergougnoux, A., Lopez, M., Scotet, V., Munck, A., Girodon, E.
Published in Journal of cystic fibrosis (01.11.2020)
Published in Journal of cystic fibrosis (01.11.2020)
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Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population
Raud, L., Le Maréchal, C., Férec, C., Fichou, Y.
Published in Transfusion medicine (Oxford, England) (01.06.2019)
Published in Transfusion medicine (Oxford, England) (01.06.2019)
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