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Eric Pasmant

Showing results (91-100 of 124) with videos related to

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Clinical Epigenetics|July 3, 2025
Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoterHélène Delhomelle, Olfa Trabelsi-Grati, Marie-Charlotte Villy, et al.
European Journal of Endocrinology|May 6, 2022
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?Lucie Coppin, Sophie Giraud, Eric Pasmant, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?Simon Garinet, Mario Néou, Bruno de La Villéon, et al.
European Journal of Endocrinology|January 22, 2024
Carney complex predisposes to breast cancer: prospective study of 50 womenPatricia Vaduva, Florian Violon, Anne Jouinot, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Human Mutation|November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletionsAntje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
European Journal of Endocrinology|December 17, 2025
PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical diseasePatricia Vaduva, Florian Violon, Albain Chansavang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2019
EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancerMichel Wassef, Armelle Luscan, Setareh Aflaki, et al.
Genes|August 25, 2019
One <i>NF1</i> Mutation may Conceal AnotherLaurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2025
PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' seriesPatricia Vaduva, Lucas Bouys, Anne Jouinot, et al.
Pageof 13

Showing results (91-100 of 124) with videos related to

Sort By:
Pageof 13
Clinical Epigenetics|July 3, 2025
Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoterHélène Delhomelle, Olfa Trabelsi-Grati, Marie-Charlotte Villy, et al.
European Journal of Endocrinology|May 6, 2022
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?Lucie Coppin, Sophie Giraud, Eric Pasmant, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?Simon Garinet, Mario Néou, Bruno de La Villéon, et al.
European Journal of Endocrinology|January 22, 2024
Carney complex predisposes to breast cancer: prospective study of 50 womenPatricia Vaduva, Florian Violon, Anne Jouinot, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Human Mutation|November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletionsAntje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
European Journal of Endocrinology|December 17, 2025
PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical diseasePatricia Vaduva, Florian Violon, Albain Chansavang, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2019
EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancerMichel Wassef, Armelle Luscan, Setareh Aflaki, et al.
Genes|August 25, 2019
One <i>NF1</i> Mutation may Conceal AnotherLaurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2025
PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' seriesPatricia Vaduva, Lucas Bouys, Anne Jouinot, et al.
Pageof 13