Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
|
18033691 |
2008 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
|
17210669 |
2007 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
|
17594722 |
2007 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.
|
15864295 |
2005 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
|
15365995 |
2004 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
|
11839723 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
|
11726306 |
2001 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
|
11748856 |
2001 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
|
10375096 |
1999 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
|
10413423 |
1999 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
10037723 |
1999 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutations in hMLH1 associated with colorectal cancer.
|
10598809 |
1999 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
|
9559627 |
1998 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
|
9833759 |
1998 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.
|
10627141 |
1998 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
|
8993976 |
1997 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
|
9311737 |
1997 |