Audrézet, Marie Pierre

Top Publications

Top Publications Authored or Co-Authored by "Audrézet, Marie Pierre"

• Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

  European Journal of Human Genetics, Volume 14, No. 5, Year 2006, Citations 94
• Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease

  Journal of the American Society of Nephrology, Volume 27, No. 3, Year 2016, Citations 66
• Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR Gene and its implications for CNM formation at other autosomal loci

  Human Mutation, Volume 31, No. 4, Year 2010, Citations 32
• Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: Clinical and genetical findings

  Genetic Counseling, Volume 23, No. 4, Year 2012, Citations 10