Published in Cancer Res on March 01, 1994
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet (1998) 1.41
Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome. Cancer (2008) 1.18
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet (1994) 1.18
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer (2004) 1.17
Origin of microsatellite instability in gastric cancer. Am J Pathol (1999) 1.10
Telomere shortening of epithelial cells characterises the adenoma-carcinoma transition of human colorectal cancer. Gut (2003) 1.09
Aberrant crypt foci as microscopic precursors of colorectal cancer. World J Gastroenterol (2003) 1.07
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet (1996) 1.07
Microsatellite instability in preinvasive and invasive head and neck squamous carcinoma. Am J Pathol (1996) 0.88
New facial papules in a 66-year-old woman with bladder cancer. J Am Acad Dermatol (2014) 0.86
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. J Med Genet (1995) 0.86
Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report. J Med Case Rep (2009) 0.83
Periocular sebaceous gland carcinoma: A comprehensive review. Saudi J Ophthalmol (2013) 0.81
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. Fam Cancer (2007) 0.78
Simultaneous Muir-Torre and Turcot's syndrome: A case report and review of the literature. Surg Neurol Int (2013) 0.77
Low frequency of replication errors in primary nervous system tumours. J Neurol Neurosurg Psychiatry (2000) 0.77
Generational Expression of Muir-Torre Syndrome in a Canadian Family. Case Rep Dermatol Med (2016) 0.75
The liver: another organ involved in Muir Torre syndrome? Fam Cancer (2012) 0.75
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med (1996) 10.60
APC mutations occur early during colorectal tumorigenesis. Nature (1992) 9.50
Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med (1999) 7.81
Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered (2003) 5.06
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res (1998) 4.39
Evaluation of candidate genes in case-control studies: a statistical method to account for related subjects. Am J Hum Genet (2001) 4.09
Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA (1995) 3.84
Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. J Natl Cancer Inst (1999) 3.46
Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst (2001) 3.37
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res (1998) 3.36
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet (2000) 3.33
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22
Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet (1994) 3.22
Incidence of reading disability in a population-based birth cohort, 1976-1982, Rochester, Minn. Mayo Clin Proc (2001) 3.18
Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res (1996) 2.89
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease. Ann Neurol (1998) 2.48
Major histocompatibility complex class I-recognizing receptors are disease risk genes in rheumatoid arthritis. J Exp Med (2001) 2.41
Smoking, alcohol, and coffee consumption preceding Parkinson's disease: a case-control study. Neurology (2000) 2.31
Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology (2000) 2.25
Anxiety disorders and depressive disorders preceding Parkinson's disease: a case-control study. Mov Disord (2000) 2.20
Potential influence of migration bias in birth cohort studies. Mayo Clin Proc (1998) 2.19
Case-control studies of genetic markers: power and sample size approximations for Armitage's test for trend. Hum Hered (2001) 2.14
Human epithelial ovarian cancer allelotype. Cancer Res (1993) 2.08
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res (1998) 1.99
Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med (1998) 1.96
Controlled trial of megestrol acetate for the treatment of cancer anorexia and cachexia. J Natl Cancer Inst (1990) 1.92
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet (1994) 1.90
Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease. Ann Neurol (1998) 1.86
Apolipoprotein E: risk factor for Alzheimer disease. Am J Hum Genet (1994) 1.83
Identification of an association between HLA class II alleles and low antibody levels after measles immunization. Vaccine (2001) 1.77
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet (1996) 1.76
The development of a multitarget, multicolor fluorescence in situ hybridization assay for the detection of urothelial carcinoma in urine. J Mol Diagn (2000) 1.74
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet (1993) 1.71
Evidence for a prostate cancer-susceptibility locus on chromosome 20. Am J Hum Genet (2000) 1.69
Familial aneurysmal subarachnoid hemorrhage: a community-based study. J Neurosurg (1995) 1.68
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet (1994) 1.68
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
Validation of a telephone questionnaire for Parkinson's disease. J Clin Epidemiol (1998) 1.65
Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. Am J Kidney Dis (1998) 1.64
Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol (2001) 1.63
Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet (1998) 1.63
Genomic cloning and characterization of a ricin gene from Ricinus communis. Nucleic Acids Res (1985) 1.61
The location of the Philadelphia chromosomal breakpoint site and prognosis in chronic granulocytic leukemia. Leukemia (1990) 1.49
Familial aggregation of gastroesophageal reflux in patients with Barrett's esophagus and esophageal adenocarcinoma. Gastroenterology (1997) 1.46
Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D. Arch Neurol (2000) 1.45
Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. Hepatology (2000) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clin Chem (1997) 1.42
Validity of family history data on PD: evidence for a family information bias. Neurology (2003) 1.41
Long-term satisfaction and psychological and social function following bilateral prophylactic mastectomy. JAMA (2000) 1.40
Radiation therapy for squamous cell carcinoma of the tonsil. Mayo Clin Proc (1994) 1.39
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. Am J Hum Genet (1991) 1.38
Candidate-gene association studies with pedigree data: controlling for environmental covariates. Genet Epidemiol (2003) 1.36
Hysterectomy, menopause, and estrogen use preceding Parkinson's disease: an exploratory case-control study. Mov Disord (2001) 1.35
Alpha1-antitrypsin deficiency allele carriers among lung cancer patients. Cancer Epidemiol Biomarkers Prev (1999) 1.32
SLC6A4 variation and citalopram response. Am J Med Genet B Neuropsychiatr Genet (2009) 1.32
The genomic organization of human dystrobrevin. Neurogenetics (1997) 1.29
The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med (1996) 1.28
Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers. Mol Genet Metab (2000) 1.28
Allelic imbalance and microsatellite instability in prostatic adenocarcinoma. Cancer Res (1996) 1.28
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol (1994) 1.26
BRCA1 and BRCA2 have a limited role in familial prostate cancer. Cancer Res (2000) 1.25
Role of HPC2/ELAC2 in hereditary prostate cancer. Cancer Res (2001) 1.24
Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics (1989) 1.24
Tissue, cell type, and breast cancer stage-specific expression of a TGF-beta inducible early transcription factor gene. J Cell Biochem (1998) 1.23
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. Gut (2010) 1.23
The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology (2003) 1.22
Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat (2000) 1.22
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet (2000) 1.20
Preclinical memory decline in cognitively normal apolipoprotein E-epsilon4 homozygotes. Neurology (1999) 1.20
HMSH6 alterations in patients with microsatellite instability-low colorectal cancer. Cancer Res (2000) 1.20
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet (1994) 1.19
Potential misinterpretation of the case-only study to assess gene-environment interaction. Am J Epidemiol (1999) 1.19
Complete responses and long-term survivals after systemic chemotherapy for patients with advanced malignant melanoma. Cancer (1989) 1.18
Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. Kidney Int (1992) 1.18
Representative cDNA libraries and their utility in gene expression profiling. Biotechniques (1999) 1.17
Choosing a pediatric recipient for orthotopic liver transplantation. J Pediatr (1987) 1.14