Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

This publication has 37 references indexed in Scilit:

• Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
  American Journal of Human Genetics, 2004
• HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1
  Genes, Chromosomes and Cancer, 2004
• Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants
  Oncogene, 2003
• Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation
  Human Mutation, 2002
• Functional Studies on the Candidate ATPase Domains of Saccharomyces cerevisiae MutLα
  Molecular and Cellular Biology, 2000
• Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations
  American Journal of Human Genetics, 1997
• Reduced Frequency of Extracolonic Cancers in Hereditary Nonpolyposis Colorectal Cancer Families with Monoallelic hMLH1Expression
  American Journal of Human Genetics, 1997
• DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
  Human Molecular Genetics, 1996
• CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
  Nucleic Acids Research, 1994
• The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
  Diseases of the Colon & Rectum, 1991