Published in J Med Genet on October 01, 1983
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New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94
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Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet (1991) 6.61
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
Quantitative trait locus for reading disability on chromosome 6. Science (1994) 6.07
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
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Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer (1993) 3.86
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 3.81
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Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res (1996) 3.60
Conversion of diploidy to haploidy. Nature (2000) 3.28
Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst (1999) 3.26
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res (1994) 3.25
Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer (1998) 2.91
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int (1992) 2.89
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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (1998) 2.84
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Accumulation of p53 tumor suppressor gene protein: an independent marker of prognosis in breast cancers. J Natl Cancer Inst (1992) 2.82
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet (1994) 2.72
A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer (1997) 2.53
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet (1998) 2.52
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet (1998) 2.51
Hurler's syndrome. A genetic study in cell culture. J Exp Med (1966) 2.46
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med (2000) 2.39
Familial gastric cancer: overview and guidelines for management. J Med Genet (1999) 2.38
Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet (1999) 2.36
Genetic--epidemiologic study of early-onset ischemic heart disease. Circulation (1980) 2.36
Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer (1996) 2.33
Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J Natl Cancer Inst (1998) 2.33
Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet (2000) 2.29
Genetic epidemiology of breast cancer and associated cancers in high-risk families. I. Segregation analysis. J Natl Cancer Inst (1983) 2.21
Genetic instability of microsatellites in endometrial carcinoma. Cancer Res (1993) 2.20
Microscopic benign and invasive malignant neoplasms and a cancer-prone phenotype in prophylactic oophorectomies. J Natl Cancer Inst (1996) 2.17
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet (1997) 2.15
Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. Am J Hum Genet (1999) 2.14
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet (2004) 2.10
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) Pediatrics (1999) 2.05
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med (1994) 2.03
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet (2000) 2.00
A polymorphic stop codon in BRCA2. Nat Genet (1996) 1.95
Specific reading disability: identification of an inherited form through linkage analysis. Science (1983) 1.94
DNA screening for breast/ovarian cancer susceptibility based on linked markers. A family study. Arch Intern Med (1993) 1.91
Localization of two genes for Usher syndrome type I to chromosome 11. Genomics (1992) 1.90
Familial atypical multiple mole-melanoma syndrome. J Med Genet (1978) 1.88
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
Cystic fibrosis of the pancreas. A study in cell culture. J Exp Med (1969) 1.85
The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol (2001) 1.84
Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history. Cancer Res (2001) 1.81
Cancer family "G" revisited: 1895-1970. Cancer (1971) 1.81
Rectal cancer in FAP patient after sulindac. Lancet (1994) 1.80
Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet (1996) 1.79
A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet (1998) 1.77
Ehlers-Danlos syndrome and "congenital" arteriovenous fistulae. A clinicopathologic study of a family. JAMA (1965) 1.77
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet (2000) 1.76
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet (1999) 1.69
A genetic cell marker in cystic fibrosis of the pancreas. Lancet (1968) 1.67
A breast-ovarian cancer susceptibility gene maps to chromosome 17q21. Am J Hum Genet (1993) 1.66
Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med (1967) 1.63
Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA (1999) 1.61
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet (2003) 1.60
A follow-up study of colonic epithelial proliferation as a biomarker ina Native-American family with hereditary nonpolyposis colon cancer. J Natl Cancer Inst (1991) 1.57
Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol (1998) 1.55
What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol (1998) 1.55
Epidemiology of pancreatic cancer: an overview. Cancer Detect Prev (2003) 1.54
Natural history of hereditary cancer of the breast and colon. Cancer (1982) 1.53
Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture. Science (1965) 1.53
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet (1999) 1.52
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). II. Biomarker studies. Cancer (1985) 1.51
Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer (2011) 1.51
Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg (1999) 1.51
Heredity and malignant melanoma: implications for early cancer detection. Can Med Assoc J (1968) 1.50
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am J Med Genet (1998) 1.50
Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma. Cancer (1978) 1.49
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res (1997) 1.49
Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res (1994) 1.49
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet (2001) 1.49
Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer (1998) 1.48
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource. Cancer (1985) 1.48
Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer (1996) 1.48
The influence of psychological distress on use of genetic testing for cancer risk. J Consult Clin Psychol (1997) 1.46
Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer (2008) 1.45
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet (1996) 1.45
Hereditary proximal colonic cancer. Dis Colon Rectum (1978) 1.45
Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet (2000) 1.45
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med (1981) 1.45
Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ (1990) 1.44