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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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
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC) : major implications for genetic counselling
LE MARECHAL, C, AUDREZET, M. P, QUERE, I, RAGUENES, O, LANGONNE, S, FEREC, C
Published in Human genetics (01.04.2001)
Published in Human genetics (01.04.2001)
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Journal Article
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
Férec, C, Raguénès, O, Salomon, R, Roche, C, Bernard, J P, Guillot, M, Quéré, I, Faure, C, Mercier, B, Audrézet, M P, Guillausseau, P J, Dupont, C, Munnich, A, Bignon, J D, Le Bodic, L
Published in Journal of medical genetics (01.03.1999)
Published in Journal of medical genetics (01.03.1999)
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Journal Article
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies
Scotet, V, De Braekeleer, M, Audrézet, M-P, Quéré, I, Mercier, B, Duguépéroux, I, Andrieux, J, Blayau, M, Férec, C
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Journal Article
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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Journal Article
Newborn screening for CF in France: An exemplary national experience
Audrézet, M.P., Munck, A.
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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Journal Article
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis ? Analyses of the CFTR gene in 67 patients
MERCIER, B, VERLINGUE, C, LISSENS, W, SILBER, S. J, NOVELLI, G, BONDUELLE, M, AUDREZET, M. P, FEREC, C
Published in American journal of human genetics (1995)
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Published in American journal of human genetics (1995)
Journal Article
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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Journal Article
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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Journal Article
WS11.1 The French CF newborn screening: optimization of the programme by a centralized tracking process
Munck, A, Delmas, D, Audrézet, M.-P, Lemonnier, L, Cheillan, D, Roussey, M
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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Journal Article
Identification of 12 novel mutations in the CFTR gene
Audrézet, M P, Mercier, B, Guillermit, H, Quéré, I, Verlingue, C, Rault, G, Férec, C
Published in Human molecular genetics (01.01.1993)
Published in Human molecular genetics (01.01.1993)
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Journal Article
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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Journal Article
WS11.1 Highlighting the importance of carrier testing in CF families
Duguépéroux, I, L'Hostis, C, Audrézet, M.-P, Rault, G, Parent, P, Blayau, M, Schmitt, S, Férec, C, Scotet, V
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
10 Mild cystic fibrosis phenotype in adult patients with novel 3272–16T>A mutation
Krasovskiy, S, Amelina, E, Usacheva, M, Stepanova, A, Poliakov, A, Audrézet, M.-P, Férec, C, Kashirskaya, N
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
ePS01.5 Update of CFTR mutation spectrum in cystic fibrosis patients from Peru
Audrézet, M.-P, Diringer, B, Le Millier, K, Kervennic, M.N, Aquino Ordinola, R, Purizaga Izquierdo, N, Férec, C
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
WS18.1 Towards a better understanding of survival data in CF
Scotet, V, Duguépéroux, I, L'Hostis, C, Audrézet, M.-P, Rault, G, Lemonnier, L, Bellis, G, Férec, C
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
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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