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European Journal of Human Genetics : EJHG|August 27, 2003
The Rapp-Hodgkin syndrome results from mutations of the TP63 geneGaëlle Bougeard, Smaïl Hadj-Rabia, Laurence Faivre, et al.
Human Molecular Genetics|April 4, 2017
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damageYasmine Zerdoumi, Raphaël Lanos, Sabine Raad, et al.
Familial Cancer|July 26, 2013
The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndromeMariette Renaux-Petel, Richard Sesboüé, Stéphanie Baert-Desurmont, et al.
Oncogene|October 7, 2004
Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instabilityAudrey Killian, Nathalie Le Meur, Richard Sesboüé, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicingDeborah Schönegger, Emilie Montellier, Sandrine Blanchet, et al.
Familial Cancer|January 8, 2022
Detecting inversions in routine molecular diagnosis in MMR genesEdwige Kasper, Sophie Coutant, Sandrine Manase, et al.
Human Mutation|November 23, 2012
Drastic effect of germline TP53 missense mutations in Li-Fraumeni patientsYasmine Zerdoumi, Juliette Aury-Landas, Catherine Bonaïti-Pellié, et al.
Oncogene|February 14, 2003
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 geneGaëlle Bougeard, Laurence Brugières, Agnès Chompret, et al.
Journal of Medical Genetics|January 30, 2020
Characterisation of heterozygous <i>PMS2</i> variants in French patients with Lynch syndromeQing Wang, Julie Leclerc, Gaëlle Bougeard, et al.
European Journal of Cancer (Oxford, England : 1990)|August 4, 2018
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutationsEdwige Kasper, Emilie Angot, Elodie Colasse, et al.
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