In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.

by Pascal Trouvé, Emmanuelle Génin, Claude Férec
Published 2017-01-01

The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the <em>CFTR</em> Gene Discovery

by Virginie Scotet, Carine L’Hostis, Claude Férec
Published 2020-05-01

Gene Conversion in Human Genetic Disease

by Jian-Min Chen, David N. Cooper, Claude Férec
Published 2010-12-01

LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption

by Jian-Min Chen, Claude Férec, David N. Cooper
Published 2006-01-01

The calpain, caspase 12, caspase 3 cascade leading to apoptosis is altered in F508del-CFTR expressing cells.

by Mathieu Kerbiriou, Ling Teng, Nathalie Benz, Pascal Trouvé, Claude Férec
Published 2009-12-01

Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator.

by Rashmi Tripathi, Nathalie Benz, Bridget Culleton, Pascal Trouvé, Claude Férec
Published 2014-01-01

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

by Ye Wang, Caixia Zhu, Liu Du, Qiaoer Li, Mei-Fang Lin, Claude Férec, Claude Férec, David N. Cooper, Jian-Min Chen, Yi Zhou
Published 2019-09-01

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren...

by Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec
Published 2013-01-01

<i>CFTR</i> Cooperative <i>Cis</i>-Regulatory Elements in Intestinal Cells

by Mégane Collobert, Ozvan Bocher, Anaïs Le Nabec, Emmanuelle Génin, Claude Férec, Stéphanie Moisan
Published 2021-03-01

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

by Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo
Published 2020-12-01

Whole-Genome Sequencing Improves the Diagnosis of <i>DFNB1</i> Monoallelic Patients

by Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Stéphanie Moisan
Published 2021-08-01

Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

by Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
Published 2020-11-01

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

by Jian-Min Chen, Anthony F. Herzig, Emmanuelle Génin, Emmanuelle Masson, David N. Cooper, Claude Férec
Published 2021-03-01

Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation.

by Cédric Bernarde, Marlène Keravec, Jérôme Mounier, Stéphanie Gouriou, Gilles Rault, Claude Férec, Georges Barbier, Geneviève Héry-Arnaud
Published 2015-01-01

Proteomic identification of calumenin as a G551D-CFTR associated protein.

by Ling Teng, Mathieu Kerbiriou, Mehdi Taiya, Sophie Le Hir, Olivier Mignen, Nathalie Benz, Pascal Trouvé, Claude Férec
Published 2012-01-01

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

by Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Published 2017-10-01

Novel long-range regulatory mechanisms controlling PKD2 gene expression

by Stéphanie Moisan, Stéphanie Levon, Emilie Cornec-Le Gall, Yannick Le Meur, Marie-Pierre Audrézet, Josée Dostie, Claude Férec
Published 2018-07-01

Improvement of chloride transport defect by gonadotropin-releasing hormone (GnRH) in cystic fibrosis epithelial cells.

by Nathalie Benz, Sophie Le Hir, Caroline Norez, Mathieu Kerbiriou, Marie-Laure Calvez, Frédéric Becq, Pascal Trouvé, Claude Férec
Published 2014-01-01

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

by Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec
Published 2009-01-01

Using Bacterial Artificial Chromosomes in Leukemia Research: The Experience at the University Cytogenetics Laboratory in Brest, France

by Etienne De Braekeleer, Nathalie Douet-Guilbert, Audrey Basinko, Frédéric Morel, Marie-Josée Le Bris, Claude Férec, Marc De Braekeleer
Published 2011-01-01