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Marion Gauthier

Showing results (31-40 of 108) with videos related to

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The Lancet. Oncology|November 27, 2013
Neonatal cancerDaniel Orbach, Sabine Sarnacki, Hervé J Brisse, et al.
European Journal of Human Genetics : EJHG|August 23, 2012
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delayLaurent Castéra, Catherine Dehainault, Dorothée Michaux, et al.
European Journal of Human Genetics : EJHG|February 15, 2007
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisationCatherine Dehainault, Dorothée Michaux, Sabine Pagès-Berhouet, et al.
Pediatric Blood & Cancer|January 7, 2020
Craniofacial second primary tumors in patients with germline retinoblastoma previously treated with external beam radiotherapy: A retrospective institutional analysisIrene Jiménez, Marick Laé, Marie-Laure Tanguy, et al.
Molecular Genetics & Genomic Medicine|April 8, 2024
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counsellingMalek Bouassida, Denise Molina-Gomes, Fairouz Koraichi, et al.
Human Mutation|May 2, 2008
Evaluation of in silico splice tools for decision-making in molecular diagnosisClaude Houdayer, Catherine Dehainault, Christophe Mattler, et al.
Human Mutation|February 10, 2016
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseThomas Smith, Gladys Ho, John Christodoulou, 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.
Plos Genetics|March 2, 2016
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1Philippine Eloy, Catherine Dehainault, Meriem Sefta, et al.
Journal of Medical Genetics|September 1, 2010
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcomaFranck Bourdeaut, Aurélie Hérault, David Gentien, et al.
Pageof 11

Showing results (31-40 of 108) with videos related to

Sort By:
Pageof 11
The Lancet. Oncology|November 27, 2013
Neonatal cancerDaniel Orbach, Sabine Sarnacki, Hervé J Brisse, et al.
European Journal of Human Genetics : EJHG|August 23, 2012
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delayLaurent Castéra, Catherine Dehainault, Dorothée Michaux, et al.
European Journal of Human Genetics : EJHG|February 15, 2007
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisationCatherine Dehainault, Dorothée Michaux, Sabine Pagès-Berhouet, et al.
Pediatric Blood & Cancer|January 7, 2020
Craniofacial second primary tumors in patients with germline retinoblastoma previously treated with external beam radiotherapy: A retrospective institutional analysisIrene Jiménez, Marick Laé, Marie-Laure Tanguy, et al.
Molecular Genetics & Genomic Medicine|April 8, 2024
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counsellingMalek Bouassida, Denise Molina-Gomes, Fairouz Koraichi, et al.
Human Mutation|May 2, 2008
Evaluation of in silico splice tools for decision-making in molecular diagnosisClaude Houdayer, Catherine Dehainault, Christophe Mattler, et al.
Human Mutation|February 10, 2016
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseThomas Smith, Gladys Ho, John Christodoulou, 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.
Plos Genetics|March 2, 2016
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1Philippine Eloy, Catherine Dehainault, Meriem Sefta, et al.
Journal of Medical Genetics|September 1, 2010
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcomaFranck Bourdeaut, Aurélie Hérault, David Gentien, et al.
Pageof 11