Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Rel...

gan Bareil, Corinne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Claustres, Mireille, des Georges, Marie
Cyhoeddwyd 2007

WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient

gan des Georges, Marie, Guittard, Caroline, Templin, Carine, Altiéri, Jean-Pierre, de Carvalho, Candice, Ramsay, Michele, Claustres, Mireille
Cyhoeddwyd 2008

Large genomic rearrangements in the CFTR gene contribute to CBAVD

gan Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille
Cyhoeddwyd 2007

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

gan Bergougnoux, Anne, Rivals, Isabelle, Liquori, Alessandro, Raynal, Caroline, Varilh, Jessica, Magalhães, Milena, Perez, Marie-José, Bigi, Nicole, Des Georges, Marie, Chiron, Raphaël, Squalli-Houssaini, Ahmed Saad, Claustres, Mireille, De Sario, Albertina
Cyhoeddwyd 2014

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

gan Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan, Pignatti, Pier-Franco, Scheffer, Hans, Schwartz, Marianne, Witt, Michal, Schwarz, Martin, Girodon, Emmanuelle
Cyhoeddwyd 2009

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus

gan Girardet, Anne, Viart, Victoria, Plaza, Stéphanie, Daina, Gemma, De Rycke, Martine, Des Georges, Marie, Fiorentino, Francesco, Harton, Gary, Ishmukhametova, Aliya, Navarro, Joaquima, Raynal, Caroline, Renwick, Pamela, Saguet, Florielle, Schwarz, Martin, SenGupta, Sioban, Tzetis, Maria, Roux, Anne-Françoise, Claustres, Mireille
Cyhoeddwyd yn Eur J Hum Genet (2016)

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

gan Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Cyhoeddwyd 2004