A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice
Costa, Catherine, Pruliere-Escabasse, Virginie, de Becdelievre, Alix, Gameiro, Christine, Golmard, Lisa, Guittard, Caroline, Bassinet, Laurence, Bienvenu, Thierry, Georges, Marie Des, Epaud, Ralph, Bieth, Eric, Giurgea, Irina, Aissat, Abdel, Hinzpeter, Alexandre, Costes, Bruno, Fanen, Pascale, Goossens, Michel, Claustres, Mireille, Coste, André, Girodon, Emmanuelle
Published in Journal of cystic fibrosis (01.12.2011)
Published in Journal of cystic fibrosis (01.12.2011)
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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
DEQUEKER, Els, STUHRMANN, Manfred, PIGNATTI, Pier-Franco, SCHEFFER, Hans, SCHWARTZ, Marianne, WITT, Michal, SCHWARZ, Martin, GIRODON, Emmanuelle, MORRIS, Michael A, CASALS, Teresa, CASTELLANI, Carlo, CLAUSTRES, Mireille, CUPPENS, Harry, DES GEORGES, Marie, FEREC, Claude, MACEK, Milan
Published in European journal of human genetics : EJHG (01.01.2009)
Published in European journal of human genetics : EJHG (01.01.2009)
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Journal Article
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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Journal Article
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis
Bonini, Jennifer, Varilh, Jessica, Raynal, Caroline, Thèze, Corinne, Beyne, Emmanuelle, Audrezet, Marie-Pierre, Ferec, Claude, Bienvenu, Thierry, Girodon, Emmanuelle, Tuffery-Giraud, Sylvie, Des Georges, Marie, Claustres, Mireille, Taulan-Cadars, Magali
Published in Genetics in medicine (01.10.2015)
Published in Genetics in medicine (01.10.2015)
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A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
TAULAN, Magali, GUITTARD, Caroline, THEZE, Corinne, CLAUSTRES, Mireille, DES GEORGES, Marie
Published in European journal of human genetics : EJHG (13.05.2009)
Published in European journal of human genetics : EJHG (13.05.2009)
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Journal Article
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene
Raynal, Caroline, Baux, David, Theze, Corinne, Bareil, Corinne, Taulan, Magali, Roux, Anne-Françoise, Claustres, Mireille, Tuffery-Giraud, Sylvie, des Georges, Marie
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Journal Article
Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
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, Milan, Claustres, Mireille, Cutting, Garry R.
Published in American journal of human genetics (01.01.2004)
Published in American journal of human genetics (01.01.2004)
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Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis
Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Roussel, Delphine, Deneuville, Eric, Bui, Stéphanie, Huet, Frédéric, Guillot, Marcel, Aboutaam, Rola, Renouil, Michel, Munck, Anne, des Georges, Marie, Iron, Albert, Thauvin-Robinet, Christel, Fajac, Isabelle, Lenoir, Gerard, Roussey, Michel, Edelman, Aleksander
Published in Thorax (01.06.2010)
Published in Thorax (01.06.2010)
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Journal Article
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Thauvin-Robinet, Christel, Munck, Anne, Huet, Frédéric, de Becdelièvre, Alix, Jimenez, Clément, Lalau, Guy, Gautier, Elodie, Rollet, Jacques, Flori, Jean, Nové-Josserand, Raphaëlle, Soufir, Jean-Claude, Haloun, Alain, Hubert, Dominique, Houssin, Elise, Bellis, Gil, Rault, Gilles, David, Albert, Janny, Laurent, Chiron, Raphaël, Rives, Nathalie, Hairion, Dominique, Collignon, Patrick, Valeri, Antoine, Karsenty, Gilles, Rossi, Annick, Audrézet, Marie-Pierre, Férec, Claude, Leclerc, Julie, Georges, Marie des, Claustres, Mireille, Bienvenu, Thierry, Gérard, Bénédicte, Boisseau, Pierre, Cabet-Bey, Faïza, Cheillan, David, Feldmann, Delphine, Clavel, Christine, Bieth, Eric, Iron, Albert, Simon-Bouy, Brigitte, Izard, Vincent, Steffann, Julie, Viville, Stéphane, Costa, Catherine, Drouineaud, Véronique, Fauque, Patricia, Binquet, Christine, Bonithon-Kopp, Claire, Morris, Mike A, Faivre, Laurence, Goossens, Michel, Roussey, Michel, Girodon, Emmanuelle
Published in Journal of medical genetics (01.04.2013)
Published in Journal of medical genetics (01.04.2013)
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Journal Article
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens
Lopez, Estelle, Viart, Victoria, Guittard, Caroline, Templin, Carine, René, Céline, Méchin, Déborah, Georges, Marie Des, Claustres, Mireille, Romey-Chatelain, Marie-Catherine, Taulan, Magali
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Journal Article
UMD-CFTR: A database dedicated to CF and CFTR-related disorders
Bareil, Corinne, Thèze, Corinne, Béroud, Christophe, Hamroun, Dalil, Guittard, Caroline, René, Céline, Paulet, Damien, Georges, Marie des, Claustres, Mireille
Published in Human mutation (01.09.2010)
Published in Human mutation (01.09.2010)
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Journal Article
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo
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
Published in Epigenetics (01.07.2014)
Published in Epigenetics (01.07.2014)
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Journal Article
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
Taulan, Magali, Guittard, Caroline, Theze, Corinne, Claustres, Mireille, Georges, Marie des
Published in European journal of human genetics : EJHG (01.12.2009)
Published in European journal of human genetics : EJHG (01.12.2009)
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Journal Article
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
Steiner, Bernhard, Rosendahl, Jonas, Witt, Heiko, Teich, Niels, Keim, Volker, Schulz, Hans-Ulrich, Pfützer, Roland, Lühr, Matthias, Gress, Thomas M., Nickel, Renate, Landt, Olfert, Koudova, Monika, Macek Jr, Milan, Farre, Antoni, Casals, Teresa, Desax, Marie-Claire, Gallati, Sabina, Gomez-Lira, Macarena, Audrezet, Marie Pierre, Férec, Claude, des Georges, Marie, Claustres, Mireille, Truninger, Kaspar
Published in Human mutation (01.08.2011)
Published in Human mutation (01.08.2011)
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Journal Article
Large genomic rearrangements in the CFTR gene contribute to CBAVD
Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille
Published in BMC medical genetics (20.04.2007)
Published in BMC medical genetics (20.04.2007)
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Journal Article
CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries
Ramos, María D., Masvidal, Laia, Giménez, Javier, Bieth, Eric, Seia, Manuela, Georges, Marie des, Armengol, Lluís, Casals, Teresa
Published in Annals of human genetics (01.09.2010)
Published in Annals of human genetics (01.09.2010)
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Journal Article
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study
RENE, Céline, PAULET, Damien, MITTRE, Hervé, FELDMANN, Delphine, GUITTARD, Caroline, CLAUSTRES, Mireille, DES GEORGES, Marie, GIRODON, Emmanuelle, COSTA, Catherine, LALAU, Guy, LECLERC, Julie, CABET-BEY, Faiza, BIENVENU, Thierry, BLAYAU, Martine, IRON, Albert
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
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Journal Article
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays
Viel, Marion, Leroy, Chrystel, Des Georges, Marie, Claustres, Mireille, Bienvenu, Thierry
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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Journal Article
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
Modiano, Guido, Bombieri, Cristina, Ciminelli, Bianca Maria, Belpinati, Francesca, Giorgi, Silvia, Georges, Marie des, Scotet, Virginie, Pompei, Fiorenza, Ciccacci, Cinzia, Guittard, Caroline, Audrézet, Marie Pierre, Begnini, Angela, Toepfer, Michael, Macek, Milan, Ferec, Claude, Claustres, Mireille, Pignatti, Pier Franco
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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