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Caroline Abadie

Showing results (1-10 of 21) with videos related to

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The Oncologist|April 2, 2024
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter ProgramKe Zhou, Martine Bellanger, Louise Crivelli, et al.
Frontiers in Oncology|February 18, 2026
From genetic risk to early detection - clinical outcomes of a person-centered screening program for women with a high genetic risk of breast cancerKe Zhou, Caroline Abadie, Louise Crivelli, et al.
Epigenomes|October 24, 2022
Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2Florestan Courant, Gwenola Bougras-Cartron, Caroline Abadie, et al.
Familial Cancer|September 14, 2021
A de novo pathogenic variant in the MSH6 gene in a 52 years-old womanElise Pierre-Noël, Fabrice Airaud, Estelle Cauchin, et al.
British Journal of Cancer|September 29, 2022
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCCFranck Chesnel, Emmanuelle Jullion, Olivier Delalande, et al.
European Journal of Human Genetics : EJHG|August 2, 2022
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherenceRoseline Vibert, Khadija Lahlou-Laforêt, Maryam Samadi, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Marion Imbert-Bouteille, Marion Gauthier-Villars, Dominique Leroux, et al.
European Journal of Medical Genetics|October 29, 2013
Involvement of germline DDX1-MYCN duplication in inherited nephroblastomaAlice Fievet, Marc-Antoine Belaud-Rotureau, Frédéric Dugay, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
The Oncologist|April 2, 2024
Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter ProgramKe Zhou, Martine Bellanger, Louise Crivelli, et al.
Frontiers in Oncology|February 18, 2026
From genetic risk to early detection - clinical outcomes of a person-centered screening program for women with a high genetic risk of breast cancerKe Zhou, Caroline Abadie, Louise Crivelli, et al.
Epigenomes|October 24, 2022
Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2Florestan Courant, Gwenola Bougras-Cartron, Caroline Abadie, et al.
Familial Cancer|September 14, 2021
A de novo pathogenic variant in the MSH6 gene in a 52 years-old womanElise Pierre-Noël, Fabrice Airaud, Estelle Cauchin, et al.
British Journal of Cancer|September 29, 2022
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCCFranck Chesnel, Emmanuelle Jullion, Olivier Delalande, et al.
European Journal of Human Genetics : EJHG|August 2, 2022
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherenceRoseline Vibert, Khadija Lahlou-Laforêt, Maryam Samadi, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Marion Imbert-Bouteille, Marion Gauthier-Villars, Dominique Leroux, et al.
European Journal of Medical Genetics|October 29, 2013
Involvement of germline DDX1-MYCN duplication in inherited nephroblastomaAlice Fievet, Marc-Antoine Belaud-Rotureau, Frédéric Dugay, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 3