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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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience
Girardet, A., Ishmukhametova, A., Willems, M., Coubes, C., Hamamah, S., Anahory, T., Des Georges, M., Claustres, M.
Published in Clinical genetics (01.02.2015)
Published in Clinical genetics (01.02.2015)
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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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Is isolated idiopathic pancreatitis associated with CFTR mutations?
PALLARES-RUIZ, N, CARLES, S, GEORGES, M DES, GUITTARD, C, CLAUSTRES, M, LARREY, D, PAGEAUX, G
Published in Gut (01.01.2000)
Published in Gut (01.01.2000)
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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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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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WS21.2 Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis by quantitative real time mutant enrichment with 3′-modified oligonucleotides (MEMO) PCR
Guissart, C, Debant, V, Bareil, C, Viart, V, des Georges, M, Claustres, M, Vincent, M.C
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients
Raynal, C, Guittard, C, Bergougnoux, A, Aufray, M, Taulan, M, Chiron, R, Bareil, C, Claustres, M, 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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WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR
Girardet, A, Templin, C, Saguet, F, Plaza, S, Guittard, C, Des Georges, M, Claustres, M
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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WS8.6 Decision algorithm and scoring method for the classification of variants of unknown clinical significance in the CFTR gene
Raynal, C, Baux, D, Thèze, C, Bareil, C, Roux, A.F, Tuffery-Giraud, S, Claustres, M, Des Georges, M
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database
Theze, C, Bareil, C, Audrézet, M.-P, Duguépéroux, I, Férec, C, Girodon, E, de Becdelièvre, A, Bienvenu, T, Malinge, M.-C, Reboul, M.-P, Fergelot, P, Lalau, G, Fresquet, F, Kitzis, A, Gaston, V, Bieth, E, Claustres, M, Des Georges, M
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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A two-days full-scanning of the CFTR gene for simultaneous detection of point mutations and large rearrangements using High Resolution Melting analysis (HRM) in combination with quantitative real-time PCR
Thèze, C, Gaston, V, Carriere, G, Claustres, M, des Georges, M, Bieth, E
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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Powerful strategy permits to rapidly characterise breakpoint junctions: essential for a better understanding of the molecular mechanism involving large rearrangements
Guittard, C, Thèze, C, des Georges, M, Claustres, M, Taulan, M
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
POMPEI, Fiorenza, CIMINELLI, Bianca Maria, CLAUSTRES, Mireille, FEREC, Claude, MACEK, Milan, MODIANO, Guido, PIGNATTI, Pier Franco, BOMBIERI, Cristina, CICCACCI, Cinzia, KOUDOVA, Monika, GIORGI, Silvia, BELPINATI, Francesca, BEGNINI, Angela, CERNY, Milos, DES GEORGES, Marie
Published in European journal of human genetics : EJHG (01.01.2006)
Published in European journal of human genetics : EJHG (01.01.2006)
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UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)
Bareil, C, Thèze, C, Audrezet, M.-P, Bienvenu, T, Girodon, E, Gaston, V, Reboul, M.-P, Fresquet, F, Leclerc, J, Malinge, M.-C, des Georges, M, Claustres, M
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Preimplantation genetic diagnosis for cystic fibrosis
Fernandez, C, Guittard, C, des Georges, M, Altieri, J.P, Templin, C, Claustres, M, Girardet, A
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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UMD-CFTR: a database dedicated to CF and CFTR-related diseases
Bareil, C, Béroud, C, Thèze, C, Paulet, D, René, C, Hamroun, D, des Georges, M, Claustres, M
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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