Genomically-guided therapies: A new era for cystic fibrosis
Fajac, I., Girodon, E.
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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ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction
Sermet-Gaudelus, I., Girodon, E., Vermeulen, F., Solomon, G.M., Melotti, P., Graeber, S.Y., Bronsveld, I., Rowe, S.M., Wilschanski, M., Tümmler, B., Cutting, G.R., Gonska, T.
Published in Journal of cystic fibrosis (01.11.2022)
Published in Journal of cystic fibrosis (01.11.2022)
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Castellani, C, Cuppens, H, Macek, M, Cassiman, J.J, Kerem, E, Durie, P, Tullis, E, Assael, B.M, Bombieri, C, Brown, A, Casals, T, Claustres, M, Cutting, G.R, Dequeker, E, Dodge, J, Doull, I, Farrell, P, Ferec, C, Girodon, E, Johannesson, M, Kerem, B, Knowles, M, Munck, A, Pignatti, P.F, Radojkovic, D, Rizzotti, P, Schwarz, M, Stuhrmann, M, Tzetis, M, Zielenski, J, Elborn, J.S
Published in Journal of cystic fibrosis (01.05.2008)
Published in Journal of cystic fibrosis (01.05.2008)
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Conference Proceeding
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene
Bergougnoux, A., Délétang, K., Pommier, A., Varilh, J., Houriez, F., Altieri, J.P., Koenig, M., Férec, C., Claustres, M., Lalau, G., Bienvenu, T., Audrézet, M.P., Pagin, A., Girodon, E., Raynal, C., Taulan-Cadars, M.
Published in Journal of cystic fibrosis (01.07.2019)
Published in Journal of cystic fibrosis (01.07.2019)
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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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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
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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Journal Article
ECFS standards of care on CFTR-related disorders: Identification and care of the disorders
Simmonds, N.J., Southern, K.W., De Wachter, E., De Boeck, K., Bodewes, F., Mainz, J.G., Middleton, P.G., Schwarz, C., Vloeberghs, V., Wilschanski, M., Bourrat, E., Chalmers, J.D., Ooi, C.Y., Debray, D., Downey, D.G., Eschenhagen, P., Girodon, E., Hickman, G., Koitschev, A., Nazareth, D., Nick, J.A., Peckham, D., VanDevanter, D., Raynal, C., Scheers, I., Waller, M.D., Sermet-Gaudelus, I., Castellani, C.
Published in Journal of cystic fibrosis (01.07.2024)
Published in Journal of cystic fibrosis (01.07.2024)
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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals
De Wachter, E, De Boeck, K, Sermet-Gaudelus, I, Simmonds, NJ, Munck, A, Naehrlich, L, Barben, J, Boyd, C, Veen, SJ, Carr, SB, Fajac, I, Farrell, PM, Girodon, E, Gonska, T, Grody, WW, Jain, M, Jung, A, Kerem, E, Raraigh, KS, van Koningsbruggen-Rietschel, S, Waller, MD, Southern, KW, Castellani, C
Published in Journal of cystic fibrosis (01.05.2024)
Published in Journal of cystic fibrosis (01.05.2024)
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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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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Thauvin-Robinet, C, Munck, A, Huet, F, Génin, E, Bellis, G, Gautier, E, Audrézet, M-P, Férec, C, Lalau, G, Georges, M Des, Claustres, M, Bienvenu, T, Gérard, B, Boisseau, P, Cabet-Bey, F, Feldmann, D, Clavel, C, Bieth, E, Iron, A, Simon-Bouy, B, Costa, C, Medina, R, Leclerc, J, Hubert, D, Nové-Josserand, R, Sermet-Gaudelus, I, Rault, G, Flori, J, Leroy, S, Wizla, N, Bellon, G, Haloun, A, Perez-Martin, S, d’Acremont, G, Corvol, H, Clément, A, Houssin, E, Binquet, C, Bonithon-Kopp, C, Alberti-Boulmé, C, Morris, M A, Faivre, L, Goossens, M, Roussey, M
Published in Journal of medical genetics (01.11.2009)
Published in Journal of medical genetics (01.11.2009)
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WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations
Said, O, Audrézet, M.-P, Gaston, V, Reboul, M.-P, Férec, C, Bieth, E, Maurin, P, Raynal, C, Bergougnoux, A, Pagin, A, Lalau, G, Bienvenu, T, Girodon, E
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family
Mekki, C, Mirlesse, V, Le Floch, A, Eche, E, Rideau, A, Bienvenu, T, Girodon, E, Gérardin, M, Fanen, P, de Becdelievre, A
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France
Munck, A, Audrézet, M.-P, Thauvin-Robinet, C, Cheillan, D, Delmas, D, Girodon, E, Roussey, M
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible
Hinzpeter, A, Reboul, M.-P, Zordan, C, Costes, B, Guichoux, J, Iron, A, Lacombe, D, Martin, N, Arveiler, B, Fanen, P, Fergelot, P, Girodon, E
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants
Sasorith, S, Baux, D, Bareil, C, Bergougnoux, A, Colomb-Jung, V, Thèze, C, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Fanen, P, Mekki, C, Bieth, E, Gaston, V, Fergelot, P, Reboul, M.-P, Kitzis, A, Lalau, G, Pagin, A, Malinge, M.-C, Claustres, M, Raynal, C
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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Journal Article
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening
Sermet-Gaudelus, I., Brouard, J., Audrézet, M.-P., Couderc Kohen, L., Weiss, L., Wizla, N., Vrielynck, S., LLerena, K., Le Bourgeois, M., Deneuville, E., Remus, N., Nguyen-Khoa, T., Raynal, C., Roussey, M., Girodon, E.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2017)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2017)
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Journal Article
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
Niel, F, Martin, J, Dastot-Le Moal, F, Costes, B, Boissier, B, Delattre, V, Goossens, M, Girodon, E
Published in Journal of medical genetics (01.11.2004)
Published in Journal of medical genetics (01.11.2004)
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Journal Article
Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis
Sermet-Gaudelus, I, Brouard, J, Audrézet, M-P, Couderc Kohen, L, Weiss, L, Wizla, N, Vrielynck, S, LLerena, K, Le Bourgeois, M, Deneuville, E, Remus, N, Nguyen-Khoa, T, Raynal, C, Roussey, M, Girodon, E
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2017)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2017)
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