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
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
Girardet, A, Guittard, C, Altieri, J-P, Templin, C, Stremler, N, Beroud, C, Des Georges, M, Claustres, M
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
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Journal Article
WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach
Varilh, J, Bonini, J, Thèze, C, Beyne, E, Altieri, J.-P, Verneau, F, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Tuffery-Giraud, S, Des Georges, M, Claustres, M, Raynal, C, Taulan-Cadars, M
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding
Taulan, M., Lopez, E., Guittard, C., René, C., Baux, D., Altieri, J.P., DesGeorges, M., Claustres, M., Romey, M.C.
Published in Biochemical and biophysical research communications (28.09.2007)
Published in Biochemical and biophysical research communications (28.09.2007)
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3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene
Pagin, A, Verneau, F, Devos, A, Altiéri, J.-P, Lalau, G, des Georges, M
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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P012 CFTR-NGS, an expanded version of the CFTR-France database for the interpretation of whole CFTR next generation sequencing data
Bareil, C., Sasorith, S., Lemattre, C., Ducharlet, J., Baux, D., Varilh, J., Altieri, J.-P., Stremler-le-Bel, N., Sermet, I., Sands, D., Girodon, E., Audrézet, M.-P., Koenig, M., Claustres, M., Taulan-Cadars, M., Raynal, C., Bergougnoux, A.
Published in Journal of cystic fibrosis (01.06.2019)
Published in Journal of cystic fibrosis (01.06.2019)
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Journal Article
Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
Bareil, Corinne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Claustres, Mireille, des Georges, Marie
Published in The Journal of molecular diagnostics : JMD (01.11.2007)
Published in The Journal of molecular diagnostics : JMD (01.11.2007)
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