Cystic fibrosis

  • COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
    Silvia Galbiati, Alessandra Monguzzi, Francesco Damin, Nadia Soriani, Marianna Passiu, Carlo Castellani, Federica Natacci, Cristina Curcio, Manuela Seia, Faustina Lalatta, Marcella Chiari, Maurizio Ferrari, Laura Cremonesi
  • Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
    D Trujillano, M D Ramos, J González, C Tornador, F Sotillo, G Escaramis, S Ossowski, L Armengol, T Casals, X Estivill
  • CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
    Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Guy Lalau, Elodie Gautier, Jacques Rollet, Jean Flori, Raphaëlle Nové-Josserand, Jean-Claude Soufir, Alain Haloun, Dominique Hubert, Elise Houssin, Gil Bellis, Gilles Rault, Albert David, Laurent Janny, Raphaël Chiron, Nathalie Rives, Dominique Hairion, Patrick Collignon, Antoine Valeri, Gilles Karsenty, Annick Rossi, Marie-Pierre Audrézet, Claude Férec, Julie Leclerc, Marie des Georges, Mireille Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, David Cheillan, Delphine Feldmann, Christine Clavel, Eric Bieth, Albert Iron, Brigitte Simon-Bouy, Vincent Izard, Julie Steffann, Stéphane Viville, Catherine Costa, Véronique Drouineaud, Patricia Fauque, Christine Binquet, Claire Bonithon-Kopp, Mike A Morris, Laurence Faivre, Michel Goossens, Michel Roussey, Emmanuelle Girodon, the collaborating working group on p.Arg117His