Françoise Charbonnier

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Dominique Campion, Cécile Dumanchin, Didier Hannequin et al. · The American Journal of Human Genetics · 1999 · 784 citations · Full text

Alzheimer's Disease, Dementia, Genetics +8

Mutations of the <i>presenilin I</i> gene in families with early-onset Alzheimer's disease

Dominique Campion, Jean‐Michel Flaman, Alexis Brice et al. · Human Molecular Genetics · 1995 · 278 citations

A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects

Isabelle Tournier, Myriam Vézain, Alexandra Martins et al. · Human Mutation · 2008 · 161 citations

Genetics, Rna Splicing, Molecular Biology +19

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Françoise Charbonnier, Sylviane Olschwang, Qing Wang et al. · PubMed · 2002 · 128 citations

Tumor Biology, Genome Instability, Fluorescent Multiplex Pcr +15

A rapid PCR fidelity assay

Jean‐Michel Flaman, Thierry Frébourg, Viviane Moreau et al. · Nucleic Acids Research · 1994 · 116 citations · Full text

Polymerase Chain Reaction, Bioanalysis, Molecular Biology +6