Associated Papers
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
36879825 (PubMed )
Supplement: mmc2.xlsx › MLH1
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp009.xlsx › Sheet1
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.
Rashid MU et al.
Hereditary Cancer in Clinical Practice, 2019
Relevance of hMLH1 -93G>A, 655A>G and 1151T>A polymorphisms with colorectal cancer susceptibility: a meta-analysis based on 38 case-control studies.
Zare M et al.
Revista Da Associacao Medica Brasileira (1992), 2018
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
Zhu M et al.
Oncology Letters, 2013
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
De Lellis L et al.
Human Mutation, 2006
A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene.
Blasi MF et al.
Cancer Research, 2006
Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma.
Hudler P et al.
Clinical Genetics, 2004
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G et al.
Journal of Medical Genetics, 2002
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
Kurzawski G et al.
Journal of Biochemical and Biophysical Methods, 2002
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.
Potocnik U et al.
Cancer Genetics and Cytogenetics, 2001
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