Published in J Med Genet on March 01, 1968
Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. J Med Genet (1968) 1.59
Type 3 hyperlipoproteinaemia. Br Med J (1969) 1.06
Micromethod for the direct determination of serum triglycerides. J Lab Clin Med (1957) 8.30
Incidence and prediction of ischaemic heart-disease in London busmen. Lancet (1966) 3.91
The increased risk of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease. J Med Genet (1966) 2.89
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. Am J Med (1964) 2.36
Serum lipids in men with myocardial infarction. Acta Med Scand (1960) 2.03
Serum lipids, hypertension and coronary artery disease. Am J Med (1961) 1.82
Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. J Med Genet (1968) 1.59
Heredity, environment, and serum cholesterol; a study of 201 healthy families. Circulation (1958) 1.28
Essential familial hypercholesterolemia and xanthomatosis; follow-up study of twelve Danish families. Am J Med (1956) 1.27
Hereditary hypercholesterolaemic xanthomatosis. Lancet (1956) 1.11
Familial hypercholesterolemia, xanthomatosis and coronary heart disease. Am J Med (1959) 1.11
Familial hypercholesteremic xanthomatosis: a preliminary report. I. Clinical, electrocardiographic and laboratory considerations. Am J Med (1959) 1.09
Plasma lipid levels and the diagnosis of coronary arteriosclerosis in England. Br Heart J (1966) 0.83
Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet (1980) 10.23
Presenting a routine screening test in antenatal care: practice observed. Public Health (1992) 5.34
Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet (1969) 5.13
Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet (1983) 4.02
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child (1981) 3.45
Subclass restriction of murine antibodies. II. The IgG plaque-forming cell response to thymus-independent type 1 and type 2 antigens in normal mice and mice expressing an X-linked immunodeficiency. J Exp Med (1980) 3.13
The increased risk of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease. J Med Genet (1966) 2.89
An economic appraisal of screening for Down's syndrome in pregnancy using maternal age and serum alpha fetoprotein concentration. Soc Sci Med (1987) 2.69
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981. Int J Epidemiol (2011) 2.68
Axial mesodermal dysplasia spectrum. Am J Med Genet (1993) 2.43
Identification of the cystic fibrosis gene. BMJ (1990) 2.34
Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. BMJ (1990) 2.17
Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet (1968) 2.03
Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology (1991) 1.97
Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives. Lancet (1972) 1.95
Evidence for different interleukin 1 receptors in murine B- and T-cell lines. Proc Natl Acad Sci U S A (1989) 1.90
Genetic epidemiology of breast cancer in Britain. Ann Hum Genet (1991) 1.89
Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet (1999) 1.78
Coning and lumbar puncture. Lancet (1980) 1.78
Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol. Br Med J (1977) 1.71
Inherited disorders associated with colorectal cancer. Cancer Surv (1989) 1.70
Is hyperviscosity a treatable component of diabetic microcirculatory disease? Lancet (1977) 1.67
Deaths from meningococcal infection in England and Wales in 1978. J R Coll Physicians Lond (1982) 1.65
Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ (1991) 1.64
Anencephalus and spina bifida in Belfast (1964-1968). Ulster Med J (1973) 1.61
Development of a self-administered questionnaire to measure women's knowledge of prenatal screening and diagnostic tests. J Psychosom Res (1988) 1.60
Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. J Med Genet (1968) 1.59
Risk estimates for screening adenomatous polyposis coli. Lancet (1990) 1.58
Immunoglobulin subclass-specific immunodeficiency in mice with an X-linked B-lymphocyte defect. J Exp Med (1979) 1.54
The psychological effects of false-positive results in prenatal screening for fetal abnormality: a prospective study. Prenat Diagn (1992) 1.53
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. J Med Genet (1990) 1.52
Neuropathological changes in the white matter following head injury. J Neuropathol Exp Neurol (1967) 1.52
Effect of supplemental oxygen on cardiopulmonary changes during gastrointestinal endoscopy. Gastrointest Endosc (1995) 1.48
Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. J Med Genet (1984) 1.48
Screening for Down's syndrome. BMJ (1988) 1.48
Influence of heredity and environment in determination of skinfold thickness in children. Br Med J (1975) 1.41
A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland. Int J Epidemiol (1978) 1.38
Lack of knowledge in health professionals: a barrier to providing information to patients? Qual Health Care (1994) 1.35
Chromosome analysis before birth and its value in genetic counselling. Br Med J (1971) 1.35
Subclass restriction of murine antibodies. III. Antigens that stimulate IgG3 in mice stimulate IgG2c in rats. J Exp Med (1980) 1.34
Cytokine receptors and B cell functions. I. Recombinant soluble receptors specifically inhibit IL-1- and IL-4-induced B cell activities in vitro. J Immunol (1990) 1.33
Raised alpha-fetoprotein levels in amniotic fluid and maternal serum in a triplet pregnancy in which one fetus had an omphalocoele. Br J Obstet Gynaecol (1975) 1.32
Cytogenetic analysis on children born of parents treated with immunosuppressive drugs. Proc Eur Dial Transplant Assoc (1978) 1.32
Recurrence risk of neural tube defects. Lancet (1980) 1.32
Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet (1994) 1.32
A case of the orocraniodigital (Juberg-Hayward) syndrome. J Med Genet (1981) 1.31
Dominant genes for colorectal cancer are not rare. Ann Hum Genet (1992) 1.30
Neural tube defect recurrence after 'partial' vitamin supplementation. J Med Genet (1989) 1.27
Factors associated with anencephalus and spina bifida in Belfast. Br J Prev Soc Med (1973) 1.27
B cell subsets and differential responses to mitogens. Immunol Rev (1982) 1.26
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess (2003) 1.26
Induction of an interleukin-1 receptor (IL-1R) on monocytic cells. Evidence that the receptor is not encoded by a T cell-type IL-1R mRNA. J Biol Chem (1990) 1.26
The epidemiology of Huntington's disease in Northern Ireland. J Med Genet (1995) 1.25
Compromised stem cell mobilization following induction therapy with lenalidomide in myeloma. Leukemia (2008) 1.24
Myelocele and alpha-fetoprotein in amniotic fluid. Lancet (1973) 1.24
Factors influencing the uptake of screening for open neural-tube defects and amniocentesis to test for Down's syndrome. Br J Obstet Gynaecol (1989) 1.19
Family history and risk of breast cancer. J Med Genet (1992) 1.18
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet (1997) 1.18
Lipid and lipoprotein concentrations in 1604 men and women in working populations in north-west London. Br Med J (1977) 1.18
Aglossia-adactylia syndrome. J Med Genet (1975) 1.17
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet (1990) 1.15
Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion. Eur J Clin Invest (1981) 1.14
Severity of disease induced by a pancreatropic Coxsackie B4 virus correlates with the H-2Kq locus of the major histocompatibility complex. Virus Res (1989) 1.13
Family similarities in the age at coronary death in familial hypercholesterolaemia. Br Med J (1977) 1.12
Genetic epidemiology of ovarian cancer: segregation analysis. Ann Hum Genet (1991) 1.10
Elevated levels of shed type II IL-1 receptor in sepsis. Potential role for type II receptor in regulation of IL-1 responses. J Immunol (1994) 1.10
Screening for Down's syndrome in the North East Thames region. Br Med J (Clin Res Ed) (1985) 1.10
Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. Br J Dermatol (1969) 1.05
Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Dis Markers (1999) 1.05
The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent (2001) 1.04
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet (1996) 1.04
A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968). J Med Genet (1980) 1.03
Polydactyly in a carrier of the gene for the Meckel syndrome. Am J Med Genet (1994) 1.02
Gene probe analysis in an informative family with multiple endocrine neoplasia syndrome type 2A (MEN 2A). Improvement in carrier risk estimation. Q J Med (1991) 1.02
Cystic fibrosis in Northern Ireland. J Med Genet (1979) 1.02
Inheritance and bleeding in factor XI deficiency. Br J Haematol (1988) 1.02
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Genomics (1994) 1.02
Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet (1978) 1.01
Congenital anomalies in twins in Northern Ireland. II: Neural tube defects, 1974-1979. Acta Genet Med Gemellol (Roma) (1989) 1.01
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet (1997) 1.01
Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population. Thorax (1976) 1.00
Neural-tube defects and vitamins: the need for a randomized clinical trial. Br J Obstet Gynaecol (1985) 1.00
Risk of cancer death in first-degree relatives of patients with hereditary non-polyposis cancer syndrome (Lynch type II): a study of 130 kindreds in the United Kingdom. Br J Surg (1990) 1.00
Psychological effects of having amniocentesis: are these due to the procedure, the risk or the behaviour? J Psychosom Res (1992) 0.99
Genetic disorders. Clin Obstet Gynaecol (1982) 0.99
Genetic differences in liability to atherosclerotic heart disease. J R Coll Physicians Lond (1974) 0.98
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet (1995) 0.98
Influence of social class on the risk of recurrence of anencephalus and spina bifida. Dev Med Child Neurol (1981) 0.96
The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord (1996) 0.95
Prevention of neural-tube-defect recurrences. Lancet (1990) 0.95
De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2. Clin Genet (1998) 0.95
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. Thorax (1998) 0.95
Familial camptodactyly with taurinuria. J Med Genet (1966) 0.94
Family study of lipid and purine levels in gout patients. Ann Rheum Dis (1982) 0.93
Opportunities for Trisenox (arsenic trioxide) in the treatment of myelodysplastic syndromes. Leukemia (2003) 0.93
IL-1 induces rapid phosphorylation of the IL-1 receptor. J Immunol (1989) 0.93
Evidence suggesting that virulence maps to the P1 region of the coxsackievirus B4 genome. J Virol (1990) 0.92
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet (1993) 0.92
Genetics of hyperlipoproteinaemias. Lancet (1971) 0.91