Published in Genet Epidemiol Suppl on January 01, 1986
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1993) 11.01
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 9.06
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. Cytogenet Cell Genet (1985) 7.70
Construction of linkage maps with DNA markers for human chromosomes. Nature (1985) 6.38
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science (1987) 5.11
FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med (2001) 3.84
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet (1984) 3.17
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet (1996) 3.13
Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med (1988) 3.01
Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod (2004) 3.01
Population-based study of congenital heart defects in Down syndrome. Am J Med Genet (1998) 2.74
A model for restriction fragment length distributions. Am J Hum Genet (1983) 2.71
The information content of phase-known matings for ordering genetic loci. Genet Epidemiol (1985) 2.59
Case-control study of whether subfertility in men is familial. BMJ (1994) 2.49
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet (2000) 2.26
Report of the committee on the genetic constitution of chromosome 1. Cytogenet Cell Genet (1989) 2.18
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00
The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet (1986) 1.90
Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity. Am J Hum Genet (1998) 1.75
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet (2001) 1.70
Segregation analysis of balanced pericentric inversions in pedigree data. Clin Genet (1986) 1.65
Somatic mutations of KIT in familial testicular germ cell tumours. Br J Cancer (2004) 1.64
Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet Genome Res (2005) 1.61
Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol (1982) 1.61
Dominant inheritance of adenomatous colonic polyps and colorectal cancer. N Engl J Med (1985) 1.58
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet (2000) 1.57
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet (1997) 1.57
Investigation of interaction between N-acetyltransferase 2 and heterocyclic amines as potential risk factors for colorectal cancer. Carcinogenesis (2003) 1.54
Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2. Eur J Cancer (1994) 1.54
Diabetic nephropathy: a risk factor for diabetes mellitus in offspring. Diabetologia (1995) 1.54
Colonic polyps in an unselected population: prevalence, characteristics, and associations. Am J Gastroenterol (1994) 1.53
Familial transmission of the FMR1 CGG repeat. Am J Hum Genet (1996) 1.53
Report of the committee on linkage and gene order. Cytogenet Cell Genet (1990) 1.48
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet (1991) 1.47
Frequency of replication errors in colorectal cancer and their association with family history. Gut (1998) 1.46
Five cases of coexistent primary ocular and cutaneous melanoma. Arch Dermatol (1993) 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
Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod (2007) 1.42
Molecular changes in the Ki-ras and APC genes in primary colorectal carcinoma and synchronous metastases compared with the findings in accompanying adenomas. Mol Pathol (2003) 1.42
Are relatives of patients with multiple HNPCC spectrum tumours at increased risk of cancer? Gut (1998) 1.42
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet (1999) 1.41
Frequency of familial colorectal cancer. Br J Surg (1991) 1.38
Human genes containing polymorphic trinucleotide repeats. Nat Genet (1992) 1.37
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
Co-occurring diagnoses among FMR1 premutation allele carriers. Clin Genet (2010) 1.33
A case-control study of diet and prostate cancer. Br J Cancer (1997) 1.32
A segregation analysis of testicular cancer based on Norwegian and Swedish families. Br J Cancer (1997) 1.31
AT-tributable risks? Nat Genet (1997) 1.28
Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am J Hum Genet (1996) 1.28
Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum Mol Genet (1993) 1.27
Non-disjunction in human sperm: evidence for an effect of increasing paternal age. Hum Mol Genet (1995) 1.26
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Ann Hum Genet (1991) 1.25
The relationship between the epidermal growth factor (EGF) 5'UTR variant A61G and melanoma/nevus susceptibility. J Invest Dermatol (2004) 1.25
Germline mutation of microRNA-125a is associated with breast cancer. J Med Genet (2009) 1.25
Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. Am J Hum Genet (2000) 1.25
The impact of RFLPs on human gene mapping. Prog Clin Biol Res (1984) 1.24
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet (1996) 1.23
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet (1999) 1.21
Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Genet (1997) 1.19
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet (1998) 1.18
Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. Genomics (1991) 1.18
A revised map of chromosome 1. Ann Hum Genet (1984) 1.16
Paternal nondisjunction in trisomy 21: excess of male patients. Hum Mol Genet (1993) 1.15
Possible linkage of a breast cancer-susceptibility locus to the ABO locus: sensitivity of LOD scores to a single new recombinant observation. Genet Epidemiol (1984) 1.13
Distribution of lod scores under uncertain mode of inheritance. Am J Hum Genet (1993) 1.12
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. Am J Med Genet (1992) 1.12
Examination of factors associated with instability of the FMR1 CGG repeat. Am J Hum Genet (1998) 1.11
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet (1996) 1.09
Feasibility of family based screening for colorectal neoplasia: experience in one general surgical practice. Gut (1993) 1.07
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. Hum Reprod (2008) 1.07
Germline BRCA2 mutations in men with breast cancer. Br J Cancer (1997) 1.07
Quantitating genetic and nongenetic factors that determine plasma sex steroid variation in normal male twins. Metabolism (1986) 1.06
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet (1999) 1.06
Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. J Med Genet (1993) 1.05
Meta- and pooled analyses of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer: a HuGE-GSEC review. Am J Epidemiol (2009) 1.05
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol (1992) 1.04
The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder. Br J Cancer (2005) 1.04
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst (2010) 1.04
Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chromosomes Cancer (1997) 1.03
Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet Med (2001) 1.03
Prevention of colorectal cancer: guidelines based on new data. WHO Collaborating Center for the Prevention of Colorectal Cancer. Bull World Health Organ (1995) 1.03
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin Genet (2008) 1.03
Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations. J Invest Dermatol (2000) 1.03
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? Am J Hum Genet (2000) 1.03
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet (2000) 1.02
Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17. Am J Hum Genet (1993) 1.02
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum Mol Genet (2000) 1.02
Comparison of allelic ratios from paired blood and paraffin-embedded normal tissue for use in a polymerase chain reaction to assess loss of heterozygosity. Mol Diagn (1999) 1.02
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet (2001) 1.01
Mutation testing in melanoma families: INK4A, CDK4 and INK4D. Br J Cancer (1999) 1.01
Estimating meiotic exchange patterns from recombination data: an application to humans. Genetics (1997) 1.01
Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am J Hum Genet (1995) 1.01
Mutation screening of the CDKN2A promoter in melanoma families. Genes Chromosomes Cancer (2000) 1.01
Genetic susceptibility to colorectal cancer in patients under 45 years of age. Br J Surg (1994) 1.01
A generalized war of attrition. J Theor Biol (1978) 1.01