Published in Hum Genet on November 01, 1998
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet (2006) 1.83
Clinically relevant subsets identified by gene expression patterns support a revised ontogenic model of Wilms tumor: a Children's Oncology Group Study. Neoplasia (2012) 1.19
Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. Br J Cancer (2000) 1.04
Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child (2006) 1.02
Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet (1980) 75.25
The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr Protoc Hum Genet (2008) 16.09
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
The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer (2004) 12.35
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
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 9.06
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (1994) 8.73
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med (2011) 7.89
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst (1999) 6.48
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA (1996) 5.95
Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function. Nature (2000) 5.86
Transfer of thymidine kinase to thymidine kinaseless L cells by infection with ultraviolet-irradiated herpes simplex virus. J Virol (1971) 5.13
COSMIC 2005. Br J Cancer (2006) 5.07
Strategies for reducing coronary heart disease and desirable limits for blood lipid concentrations: guidelines of the British Hyperlipidaemia Association. Br Med J (Clin Res Ed) (1987) 5.01
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet (1995) 4.86
Meta-analysis of respiratory rehabilitation in chronic obstructive pulmonary disease. Lancet (1996) 4.65
Does the dental profession know how to care for the primary dentition? Br Dent J (2003) 4.62
The diabetes network internet-based physical activity intervention: a randomized pilot study. Diabetes Care (2001) 4.19
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer (2002) 4.18
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet (1997) 4.16
Scoring system to improve cost effectiveness of open access endoscopy. Br Med J (Clin Res Ed) (1983) 4.09
Hereditary hemochromatosis. Phenotypic expression of the disease. N Engl J Med (1979) 4.09
Independent regulatory elements in the nestin gene direct transgene expression to neural stem cells or muscle precursors. Neuron (1994) 4.00
Increases in platelet and red cell counts, blood viscosity, and arterial pressure during mild surface cooling: factors in mortality from coronary and cerebral thrombosis in winter. Br Med J (Clin Res Ed) (1984) 4.00
Genetic linkage between hereditary hemochromatosis and HLA. Am J Hum Genet (1979) 3.96
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet (1995) 3.81
Corticosteroid treatment for sepsis: a critical appraisal and meta-analysis of the literature. Crit Care Med (1995) 3.74
Views of elderly patients and their relatives on cardiopulmonary resuscitation. BMJ (1994) 3.64
Food for New Zealanders. N Z Med J (1991) 3.59
Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet (1996) 3.56
A mapped set of DNA markers for human chromosome 17. Genomics (1988) 3.55
Risk of thrombosis in human atherosclerotic plaques: role of extracellular lipid, macrophage, and smooth muscle cell content. Br Heart J (1993) 3.54
Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet (2000) 3.42
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet (1994) 3.38
Increased thrombotic vascular events after change of statin. Lancet (1998) 3.34
Cancer and genomics. Nature (2001) 3.15
The influence of neighborhood disadvantage, collective socialization, and parenting on African American children's affiliation with deviant peers. Child Dev (2001) 3.11
Determinants in Canadian health care workers of the decision to withdraw life support from the critically ill. Canadian Critical Care Trials Group. JAMA (1995) 3.08
Electrophoresis of thymidine kinase activity synthesized by cells transformed by herpes simplex virus. Virology (1972) 3.05
Synthesis and biophysical studies of short oligodeoxynucleotides with novel modifications: a possible approach to the problem of mixed base oligodeoxynucleotide synthesis. Nucleic Acids Res (1984) 3.00
Development of a disease specific questionnaire to measure health related quality of life in patients with chronic liver disease. Gut (1999) 2.98
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
Health of the public. The academic response. Health of the Public Mission Statement Working Group. JAMA (1992) 2.95
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet (1996) 2.93
Simple sequence repeats as a source of quantitative genetic variation. Trends Genet (1997) 2.92
Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene (1995) 2.91
Meta-analysis of benzodiazepine use in the treatment of insomnia. CMAJ (2000) 2.91
BRCA2 mutations in primary breast and ovarian cancers. Nat Genet (1996) 2.91
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene (2007) 2.83
Pleuropulmonary blastoma: a marker for familial disease. J Pediatr (1996) 2.83
Is there a minimum caseload that achieves acceptable operative mortality in abdominal aortic aneurysm operations? Eur J Vasc Endovasc Surg (2006) 2.80
BRCA1/BRCA2 germline mutations in locally recurrent breast cancer patients after lumpectomy and radiation therapy: implications for breast-conserving management in patients with BRCA1/BRCA2 mutations. J Clin Oncol (1999) 2.79
Mortality in vegetarians and nonvegetarians: detailed findings from a collaborative analysis of 5 prospective studies. Am J Clin Nutr (1999) 2.78
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet (1997) 2.77
Critical illness myopathy and neuropathy. Lancet (1996) 2.71
Risk of death from cancer and ischaemic heart disease in meat and non-meat eaters. BMJ (1994) 2.70
Fatty acid composition of erythrocytes and plasma triglyceride and cardiovascular risk in Asian diabetic patients. Lancet (1994) 2.65
Appendicitis near its centenary. Ann Surg (1984) 2.56
Reasoned action and social reaction: willingness and intention as independent predictors of health risk. J Pers Soc Psychol (1998) 2.55
A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer (1997) 2.53
Natural history of stage IV epithelial ovarian cancer. J Clin Oncol (1999) 2.52
Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes. Am J Hum Genet (1990) 2.45
Increased platelet and red cell counts, blood viscosity, and plasma cholesterol levels during heat stress, and mortality from coronary and cerebral thrombosis. Am J Med (1986) 2.44
Classification of perinatal death. Arch Dis Child (1989) 2.43
Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA. Mol Gen Genet (1983) 2.43
Phimosis in boys. Br J Urol (1980) 2.42
ILAE Commission Report. Proposal for a new classification of outcome with respect to epileptic seizures following epilepsy surgery. Epilepsia (2001) 2.42
Predicting young adults' health risk behavior. J Pers Soc Psychol (1995) 2.40
Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet (1996) 2.40
P300-based brain computer interface: reliability and performance in healthy and paralysed participants. Clin Neurophysiol (2006) 2.36
Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer (1996) 2.33
Undetected eye disease in a primary care clinic population. Arch Intern Med (1994) 2.32
Funduscopy: a forgotten art? Postgrad Med J (1999) 2.28
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet (2000) 2.26
Diet, nutrition and the prevention of type 2 diabetes. Public Health Nutr (2004) 2.25
Can health visitors prevent fractures in elderly people? BMJ (1992) 2.25
Depressive symptoms and metabolic control in African-Americans with type 2 diabetes. Diabetes Care (2000) 2.23
The genetics of breast cancer susceptibility. Annu Rev Genet (1998) 2.21
A prospective cohort study to determine the relationship between serum infliximab concentration and efficacy in patients with luminal Crohn's disease. Aliment Pharmacol Ther (2014) 2.18
Global surveillance and forecasting of AIDS. Bull World Health Organ (1989) 2.17
Fatal myocardial infarction and use of psychotropic drugs in young women. Lancet (1992) 2.16
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet (1997) 2.15
SOM230: a novel somatostatin peptidomimetic with broad somatotropin release inhibiting factor (SRIF) receptor binding and a unique antisecretory profile. Eur J Endocrinol (2002) 2.13
Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet (1998) 2.12
Utah pedigree studies: design and preliminary data for premature male CHD deaths. Prog Clin Biol Res (1979) 2.11
Cardiopulmonary resuscitation training: where are we now? J R Coll Physicians Lond (1998) 2.11
Cytologic identification of clinically occult proliferative breast disease in women with a family history of breast cancer. Am J Clin Pathol (1991) 2.07
Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet (1995) 2.06
Plain abdominal radiographs in acute medical emergencies: an abused investigation? Postgrad Med J (2002) 2.04
Hamartoma of the tongue. J Laryngol Otol (1993) 2.04
Randomised controlled trial of effect of fruit and vegetable consumption on plasma concentrations of lipids and antioxidants. BMJ (1997) 2.04
Developing performance measures for alcohol and other drug services in managed care plans. Washington Circle Group. Jt Comm J Qual Improv (2000) 2.03
Maximizing oxygen delivery in critically ill patients: a methodologic appraisal of the evidence. Crit Care Med (1996) 2.02