Published in Genes Chromosomes Cancer on April 01, 1997
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A (1998) 9.66
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Is surveillance of the small bowel indicated for Lynch syndrome families? Gut (2007) 2.42
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet (1999) 2.27
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet (2002) 2.17
Microsatellite instability and high content of activated cytotoxic lymphocytes identify colon cancer patients with a favorable prognosis. Am J Pathol (2001) 2.13
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers. Proc Natl Acad Sci U S A (1999) 1.28
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. Br J Cancer (2007) 1.16
Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. Fam Cancer (2004) 0.99
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet (2008) 0.97
Mutation and methylation of hMLH1 in gastric carcinomas with microsatellite instability. World J Gastroenterol (2003) 0.97
MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease. Br J Cancer (2006) 0.96
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. Gut (2002) 0.92
Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours. Br J Cancer (1999) 0.87
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum. Hered Cancer Clin Pract (2008) 0.85
Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests. Nucleic Acids Res (1998) 0.85
Endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review). Curr Genomics (2009) 0.85
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. Nucleic Acids Res (1999) 0.84
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. DNA Repair (Amst) (2012) 0.83
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. PLoS One (2013) 0.82
Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats. J Biol Chem (2012) 0.82
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome. Fam Cancer (2012) 0.81
Modeling and Global Optimization of DNA separation. Comput Chem Eng (2014) 0.81
First report of a de novo germline mutation in the MLH1 gene. World J Gastroenterol (2006) 0.80
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. Fam Cancer (2009) 0.75
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes. J Community Genet (2017) 0.75
Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways. J Gastrointest Oncol (2016) 0.75
A novel MSH2 germline mutation in a Druze HNPCC family. Fam Cancer (2007) 0.75
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
Clues to the pathogenesis of familial colorectal cancer. Science (1993) 14.52
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93
Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet (2000) 8.58
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 8.41
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res (1993) 4.93
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
Conversion of diploidy to haploidy. Nature (2000) 3.28
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res (1994) 3.25
A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. Proc Natl Acad Sci U S A (1993) 3.09
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology (2000) 3.01
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer (1995) 2.85
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology (1996) 2.60
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet (2001) 2.50
Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res (1993) 2.48
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer. Nature (1988) 2.47
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med (1995) 2.40
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer (1998) 2.27
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet (1999) 2.27
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid. Gut (2005) 2.13
Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res (2001) 2.12
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet (2004) 2.10
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98
Microsatellite instability as an indicator of hereditary susceptibility to colon cancer. Gastroenterology (1995) 1.97
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol (2001) 1.97
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A (2001) 1.94
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology (2001) 1.84
Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene (2000) 1.83
The etiology of maleness in XX men. Hum Genet (1981) 1.82
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Deletions of the short arm of chromosome 3 in solid tumors and the search for suppressor genes. Adv Cancer Res (1997) 1.81
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet (2001) 1.81
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus. Hum Genet (1986) 1.80
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet (1999) 1.79
LKB1 somatic mutations in sporadic tumors. Am J Pathol (1999) 1.79