Concepedia
Statistics
Publications
25
Citations
2.3K
H-Index
19
Active since
1994
Affiliations
Université de Rouen Normandie(Current)
Inserm
Centre Hospitalier Universitaire de Rouen
Normandie Université
Centre de Génétique Moléculaire
Françoise Charbonnier is an author at Université de Rouen Normandie specializing in life sciences, genetics, and medical genetics.
Publications per year
1994–2020
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 · 788 citations · Full text
Life Sciences, Genetics, Neurology +16
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 · 281 citations
Life Sciences, Genetics, Molecular Genetics +17
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 · 163 citations
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
Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome
Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry et al. · Journal of Medical Genetics · 2017 · 118 citations
Life Sciences, Genetics, Oncology +17
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