Found: 9
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Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 105, doi. 10.1007/s00439-002-0866-4
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- Article
Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.
- Published in:
- Oncogene, 2005, v. 24, n. 9, p. 1542, doi. 10.1038/sj.onc.1208387
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- Article
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.
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- Familial Cancer, 2011, v. 10, n. 3, p. 515, doi. 10.1007/s10689-011-9436-z
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- Article
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
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- Familial Cancer, 2009, v. 8, n. 4, p. 489, doi. 10.1007/s10689-009-9274-4
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- Article
APC and β-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.
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- Familial Cancer, 2005, v. 4, n. 2, p. 187, doi. 10.1007/s10689-004-6130-4
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- Article
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 40, n. 3, p. 261, doi. 10.1002/gcc.20040
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- Article
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
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- Human Mutation, 2012, v. 33, n. 8, p. 1294, doi. 10.1002/humu.22119
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- Article
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. 107, doi. 10.1002/humu.21409
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- Publication type:
- Article
Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 11, p. 1303, doi. 10.1093/hmg/11.11.1303
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- Article