M.‐P. Audrézet
Inserm(FR)Inserm(FR)Université de Bretagne Occidentale(FR)Laboratoire des Sciences et Techniques de l’Information de la Communication et de la Connaissance(FR)Centre Hospitalier Régional Universitaire de Brest(FR)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Neonatal Respiratory Health Research, Tracheal and airway disorders, Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease(2016)458 cited
- → Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis(1999)199 cited
- → Detection of over 98% cystic fibrosis mutations in a Celtic population(1992)184 cited
- → Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling(2001)133 cited
- → 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 French Patients(2013)119 cited
- → PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis