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authFullName_s : Caroline Abadie
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Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC

Franck Chesnel , Emmanuelle Jullion , Olivier Delalande , Anne Couturier , Adrien Alusse et al.
British Journal of Cancer, 2022, 127 (11), pp.1954-1962. ⟨10.1038/s41416-022-01985-2⟩
Journal articles hal-03800523v1

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Sandie Le Guédard-Méreuze , Christel Vache , David Baux , Valérie Faugère , Lise Larrieu et al.
Human Mutation, 2010, 31 (3), pp.347-355. ⟨10.1002/humu.21193⟩
Journal articles istex hal-02444172v1

Non-USH2A mutations in USH2 patients.

Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie et al.
Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩
Journal articles istex inserm-00650795v1

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Alice Fievet , Marc-Antoine Belaud-Rotureau , Frédéric Dugay , Caroline Abadie , Catherine Henry et al.
European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
Journal articles hal-00933759v1

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vache , Thomas Besnard , Pauline Le Berre , Gema García-García , David Baux et al.
Human Mutation, 2012, 33 (1), pp.104-108. ⟨10.1002/humu.21634⟩
Journal articles istex hal-02443312v1
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Neuroblastoma and tooth abnormalities: a common history?

Caroline Abadie , Bénédicte Lechaix , Virginie Gandemer , Martine Bonnaure-Mallet
Oral Oncology, 2013, 49 (4), pp.e11-3. ⟨10.1016/j.oraloncology.2012.12.013⟩
Journal articles inserm-00825411v1