Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience von Girardet, A., Ishmukhametova, A., Willems, M., Coubes, C., Hamamah, S., Anahory, T., Des Georges, M., Claustres, M.

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Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease von Azad, Abul Kalam, Rauh, Robert, Vermeulen, François, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, Georges, Marie des, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balaščáková, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tümmler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, Cuppens, Harry

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Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements von Girardet, A, Guittard, C, Altieri, J-P, Templin, C, Stremler, N, Beroud, C, Des Georges, M, Claustres, M

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WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach von 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

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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 von Pagin, A, Verneau, F, Devos, A, Altiéri, J.-P, Lalau, G, des Georges, M

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11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients von Raynal, C, Guittard, C, Bergougnoux, A, Aufray, M, Taulan, M, Chiron, R, Bareil, C, Claustres, M, des Georges, M

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WS10.3 What can next-generation sequencing do for CF? von Varilh, J, Bonini, J, Thèze, C, Altiéri, J.-P, Claustres, M, Raynal, C, des Georges, M, Taulan-Cadars, M

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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 von Guissart, C, Debant, V, Bareil, C, Viart, V, des Georges, M, Claustres, M, Vincent, M.C

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Is isolated idiopathic pancreatitis associated with CFTR mutations? von PALLARES-RUIZ, N, CARLES, S, GEORGES, M DES, GUITTARD, C, CLAUSTRES, M, LARREY, D, PAGEAUX, G

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WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR von Girardet, A, Templin, C, Saguet, F, Plaza, S, Guittard, C, Des Georges, M, Claustres, M

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WS8.6 Decision algorithm and scoring method for the classification of variants of unknown clinical significance in the CFTR gene von Raynal, C, Baux, D, Thèze, C, Bareil, C, Roux, A.F, Tuffery-Giraud, S, Claustres, M, Des Georges, M

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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations von 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

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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database von 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

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5 Assessing the impact of unclassified variants on splicing of CFTR mRNA: in silico predictions versus ex vivo assays von Raynal, C, Taulan, M, Viart, V, Theze, C, Miro, J, Tuffery-Giraud, S, Claustres, M, des Georges, M

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P24 Preimplantation genetic diagnosis for cystic fibrosis: The Montpellier center experience von Fernandez, C, Guittard, C, Des Georges, M, Coubes, C, Anahory, T, Déchaud, H, Hamamah, S, Claustres, M, Girardet, A

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Powerful strategy permits to rapidly characterise breakpoint junctions: essential for a better understanding of the molecular mechanism involving large rearrangements von Guittard, C, Thèze, C, des Georges, M, Claustres, M, Taulan, M

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Search for population-specific CFTR mutations: How to avoid the identification of unclassified variants von Altieri, J.P, Templin, C, Guittard, C, Claustres, M, des Georges, M

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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 qu... von Thèze, C, Gaston, V, Carriere, G, Claustres, M, des Georges, M, Bieth, E

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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) von 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

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UMD-CFTR: a database dedicated to CF and CFTR-related diseases von Bareil, C, Béroud, C, Thèze, C, Paulet, D, René, C, Hamroun, D, des Georges, M, Claustres, M

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