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Journal of Human Genetics|August 10, 2012
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancerJérémie H Lefevre, Carolina Bonilla, Chrystelle Colas, et al.Bulletin Du Cancer|May 5, 2020
[MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)]Marie-Pierre Buisine, Valérie Bonadona, Stéphanie Baert-Desurmont, et al.European Journal of Medical Genetics|October 15, 2020
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)Chrystelle Colas, Valérie Bonadona, Stéphanie Baert-Desurmont, et al.Journal of Medical Genetics|February 24, 2021
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working groupMelyssa Aronson, Chrystelle Colas, Andrew Shuen, et al.Journal of Medical Genetics|November 21, 2022
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiencyZeinab Ghorbanoghli, Mariëtte van Kouwen, Birgitta Versluys, et al.Neuropathology and Applied Neurobiology|July 31, 2023
First report of medulloblastoma in a patient with MUTYH-associated polyposisMarie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, et al.NPJ Precision Oncology|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsRichard Gallon, Carlijn Brekelmans, Marie Martin, et al.Diseases of the Colon and Rectum|January 15, 2019
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective StudyNoha El Hachem, Caroline Abadie, Michel Longy, et al.Journal of the National Cancer Institute|April 3, 2020
Germline MBD4 Mutations and Predisposition to Uveal MelanomaAnne-Céline Derrien, Manuel Rodrigues, Alexandre Eeckhoutte, et al.European Radiology|July 9, 2024
Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomasMagali Raveneau, Léa Guerrini-Rousseau, Raphael Levy, et al.Pageof 12