Marie des Georges
Centre Hospitalier Universitaire de Nantes(FR)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Tracheal and airway disorders, Neonatal Respiratory Health Research, Congenital Ear and Nasal Anomalies, Genomics and Rare Diseases
Most-Cited Works
- → Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign(2004)250 cited
- → Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France(2000)250 cited
- → Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations(2008)241 cited
- → Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease(2009)90 cited
- → CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants(2017)89 cited
- → Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?(2004)59 cited
- → Large genomic rearrangements in the CFTRgene contribute to CBAVD(2007)51 cited
- → Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality(1999)42 cited
- → ANCA-Negative Pauci-immune Necrotizing Glomerulonephritis: A Case Series and a New Clinical Classification(2021)37 cited
- → Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders(2007)36 cited