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Thierry Frebourg

Showing results (21-30 of 150) with videos related to

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Human Molecular Genetics|May 5, 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.
Human Molecular Genetics|September 1, 2017
Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila modelMarine Pons, Laetitia Miguel, Camille Miel, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)Andréas Andreou, Aude Lamy, Valérie Layet, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 26, 2009
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancerClaire Julian-Reynier, Françoise Chabal, Thierry Frebourg, et al.
Journal of Alzheimer'S Disease : JAD|July 17, 2010
Frontotemporal dementia phenotype associated with MAPT gene duplicationAnne Rovelet-Lecrux, Didier Hannequin, Olivier Guillin, et al.
Cancer Research|February 7, 2002
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancerFrançoise Charbonnier, Sylviane Olschwang, Qing Wang, et al.
Human Mutation|August 31, 2002
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragmentsFederica Casilli, Zorika Christiana Di Rocco, Sophie Gad, et al.
Clinical Chemistry|May 20, 2008
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragmentsEster Castellsagué, Sara González, Marga Nadal, et al.
Human Mutation|August 3, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elementsHélène Tubeuf, Camille Charbonnier, Omar Soukarieh, et al.
Gastroenterologie Clinique Et Biologique|March 10, 2007
[Recent advances for the identification and screening of Lynch syndrome]Sylviane Olschwang, François Paraf, Pierre Laurent-Puig, et al.
Pageof 15

Showing results (21-30 of 150) with videos related to

Sort By:
Pageof 15
Human Molecular Genetics|May 5, 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.
Human Molecular Genetics|September 1, 2017
Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila modelMarine Pons, Laetitia Miguel, Camille Miel, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)Andréas Andreou, Aude Lamy, Valérie Layet, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 26, 2009
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancerClaire Julian-Reynier, Françoise Chabal, Thierry Frebourg, et al.
Journal of Alzheimer'S Disease : JAD|July 17, 2010
Frontotemporal dementia phenotype associated with MAPT gene duplicationAnne Rovelet-Lecrux, Didier Hannequin, Olivier Guillin, et al.
Cancer Research|February 7, 2002
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancerFrançoise Charbonnier, Sylviane Olschwang, Qing Wang, et al.
Human Mutation|August 31, 2002
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragmentsFederica Casilli, Zorika Christiana Di Rocco, Sophie Gad, et al.
Clinical Chemistry|May 20, 2008
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragmentsEster Castellsagué, Sara González, Marga Nadal, et al.
Human Mutation|August 3, 2020
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elementsHélène Tubeuf, Camille Charbonnier, Omar Soukarieh, et al.
Gastroenterologie Clinique Et Biologique|March 10, 2007
[Recent advances for the identification and screening of Lynch syndrome]Sylviane Olschwang, François Paraf, Pierre Laurent-Puig, et al.
Pageof 15