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

Journal of Medical Genetics Jul 2016, 53 (7) 481-487; DOI: 10.1136/jmedgenet-2015-103229
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

Journal of Medical Genetics Apr 2013, 50 (4) 220-227; DOI: 10.1136/jmedgenet-2012-101427
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato

Journal of Medical Genetics Apr 2017, 54 (4) 224-235; DOI: 10.1136/jmedgenet-2016-103985
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
Frauke Stanke, Tim Becker, Vinod Kumar, Silke Hedtfeld, Christian Becker, Harry Cuppens, Stephanie Tamm, Jennifer Yarden, Ulrike Laabs, Benny Siebert, Luis Fernandez, Milan Macek, Dragica Radojkovic, Manfred Ballmann, Joachim Greipel, Jean-Jacques Cassiman, Thomas F Wienker, Burkhard Tümmler

Journal of Medical Genetics Jan 2011, 48 (1) 24-31; DOI: 10.1136/jmg.2010.080937
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens
Estelle Lopez, Victoria Viart, Caroline Guittard, Carine Templin, Céline René, Déborah Méchin, Marie Des Georges, Mireille Claustres, Marie-Catherine Romey-Chatelain, Magali Taulan

Journal of Medical Genetics Mar 2011, 48 (3) 152-159; DOI: 10.1136/jmg.2010.081851
Variants in mannose-binding lectin and tumour necrosis factor α affect survival in cystic fibrosis
Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Xinjing Wang, Garry R Cutting

Journal of Medical Genetics Mar 2007, 44 (3) 209-214; DOI: 10.1136/jmg.2006.046318
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR
Molly B Sheridan, Timothy W Hefferon, Nulang Wang, Christian Merlo, Carlos Milla, Drucy Borowitz, Eric D Green, Peter J Mogayzel, Garry R Cutting

Journal of Medical Genetics Apr 2011, 48 (4) 235-241; DOI: 10.1136/jmg.2010.083287
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height
Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Mika Kivimaki, Meena Kumari, Richard M Martin, Alison Pattie, Avan Aihie Sayer, John M Starr, Andrew Wong, Diana Kuh, Santiago Rodriguez, Ian N M Day

Journal of Medical Genetics Apr 2016, 53 (4) 280-288; DOI: 10.1136/jmedgenet-2015-103342
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis
M Gabolde, D Hubert, M Guilloud-Bataille, C Lenaerts, J Feingold, C Besmond

Journal of Medical Genetics May 2001, 38 (5) 310-311; DOI: 10.1136/jmg.38.5.310
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

Journal of Medical Genetics May 2007, 44 (5) 341-346; DOI: 10.1136/jmg.2006.045880

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