Associated Papers
Staining the Invisible: Immunohistochemistry for Early Detection of Mismatch Repair Deficiency in Pediatric High-Grade Brain Tumors.
Yildirim UM et al.
Pediatric Blood & Cancer, 2026
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM et al.
Acta Neuropathologica Communications, 2023
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M et al.
Journal of Medical Genetics, 2020
31494577 (PubMed )
Supplement: jmedgenet-2019-106272supp001.xlsx › Suppl_Table_S7
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R et al.
Human Mutation, 2019
30740824 (PubMed )
Supplement: HUMU-40-649-s003.xlsx › CMMRD_Cohort
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.
Ripperger T et al.
Haematologica, 2010
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