Published in Am J Hum Genet on November 01, 1988
Convergent evolution of the red- and green-like visual pigment genes in fish, Astyanax fasciatus, and human. Proc Natl Acad Sci U S A (1990) 1.72
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest (1990) 1.41
Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proc Natl Acad Sci U S A (1989) 1.30
Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans. Proc Natl Acad Sci U S A (1990) 1.00
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet (1994) 0.83
Normality of colour vision in a compound heterozygous female carrying protan and deutan defects. Clin Exp Optom (2009) 0.75
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Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
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Molecular genetics of inherited variation in human color vision. Science (1986) 5.28
Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes. Hemoglobin (1982) 3.22
Normal and abnormal color-vision genes. Am J Hum Genet (1988) 2.61
Genetics of protan and deutan color-vision anomalies: an instructive family. Am J Hum Genet (1969) 1.25
Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. Hum Genet (1984) 0.96
Non-allelic compounds of protan and deutan deficiencies. Mod Probl Ophthalmol (1976) 0.87
A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA (1995) 11.45
Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) (1966) 6.15
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The organization, promoter analysis, and expression of the human PPARgamma gene. J Biol Chem (1997) 4.55
PPARalpha and PPARgamma activators direct a distinct tissue-specific transcriptional response via a PPRE in the lipoprotein lipase gene. EMBO J (1996) 4.11
Familial multifocal fibrosclerosis. Findings suggesting that retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and pseudotumor of the orbit may be different manifestations of a single disease. Ann Intern Med (1967) 4.00
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
Frequency of sickling disorders in U.S. blacks. N Engl J Med (1973) 2.74
Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. J Clin Invest (1973) 2.65
Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc Natl Acad Sci U S A (1984) 2.64
Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet (1974) 2.49
Hazards of indiscriminate screening for sickling. N Engl J Med (1971) 2.38
Public health and long-term genetic implications of intrauterine diagnosis and selective abortion. Birth Defects Orig Artic Ser (1971) 2.28
Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism. Ann Intern Med (1972) 1.90
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci U S A (1983) 1.89
Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation (2000) 1.76
A partial cDNA clone for human apolipoprotein B. Proc Natl Acad Sci U S A (1985) 1.76
Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA (1998) 1.73
Population genetic studies in the Congo. I. Glucose-6-phosphate dehydrogenase deficiency, hemoglobin S, and malaria. Am J Hum Genet (1966) 1.72
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. Science (1967) 1.68
Jewish diseases and origins. Nat Genet (1995) 1.65
Hyperlipidemia in coronary heart disease. 3. Evaluation of lipoprotein phenotypes of 156 genetically defined survivors of myocardial infarction. J Clin Invest (1973) 1.64
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Screening for genetic diseases. N Engl J Med (1997) 1.55
Transcriptional activation of the lipoprotein lipase and apolipoprotein E genes accompanies differentiation in some human macrophage-like cell lines. Biochemistry (1988) 1.52
A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. Am J Hum Genet (1969) 1.51
Nonrandom patterns of codon usage and of nucleotide substitutions in human alpha- and beta-globin genes: an evolutionary strategy reducing the rate of mutations with drastic effects? Proc Natl Acad Sci U S A (1981) 1.45
Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27. Am J Hum Genet (1987) 1.43
Spectrophotometric assays for the enzymatic hydrolysis of the active metabolites of chlorpyrifos and parathion by plasma paraoxonase/arylesterase. Anal Biochem (1989) 1.42
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41
Lipoprotein lipase is synthesized by macrophage-derived foam cells in human coronary atherosclerotic plaques. J Clin Invest (1992) 1.40
Population genetic studies in the Congo. 3. Blood groups (ABO, MNSs, Rh, Jsa). Am J Hum Genet (1966) 1.40
Role of genetic polymorphism of human plasma paraoxonase/arylesterase in hydrolysis of the insecticide metabolites chlorpyrifos oxon and paraoxon. Am J Hum Genet (1988) 1.38
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet (1996) 1.37
Elimination of cholesterol in macrophages and endothelial cells by the sterol 27-hydroxylase mechanism. Comparison with high density lipoprotein-mediated reverse cholesterol transport. J Biol Chem (1997) 1.36
The advent of the "unpatients'. Nat Med (1996) 1.36
Genetics of hyperlipidemia in coronary heart disease. Trans Assoc Am Physicians (1972) 1.34
Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am J Hum Genet (1992) 1.34
Analbuminemia in an American Indian girl. Clin Genet (1976) 1.33
Serum paraoxonase and its influence on paraoxon and chlorpyrifos-oxon toxicity in rats. Toxicol Appl Pharmacol (1990) 1.32
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest (1990) 1.32
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. J Pediatr (1968) 1.30
Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proc Natl Acad Sci U S A (1989) 1.30
Pleiotropic genetic effects on LDL size, plasma triglyceride, and HDL cholesterol in families. Arterioscler Thromb Vasc Biol (1999) 1.27
Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies. Am J Hum Genet (1983) 1.27
Predictive genetic diagnosis. Am J Hum Genet (1994) 1.25
Genetics of protan and deutan color-vision anomalies: an instructive family. Am J Hum Genet (1969) 1.25
Restricted variation in the glycolytic enzymes of human brain and erythrocytes. Nat New Biol (1973) 1.25
Current concepts in genetics. The genetic hyperlipidemias. N Engl J Med (1976) 1.23
Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. Nat Genet (1999) 1.22
The upper limb-cardiovascular syndrome. An autosomal dominant genetic effect on embryogenesis. JAMA (1965) 1.22
Myocardial infarction in the familial forms of hypertriglyceridemia. Metabolism (1976) 1.21
Impact of genetic manipulation on society and medicine. Science (1983) 1.19
The glutathione S-transferase mu polymorphism as a marker for susceptibility to lung carcinoma. Cancer Res (1993) 1.19
A genetic polymorphism of the peroxisome proliferator-activated receptor gamma gene influences plasma leptin levels in obese humans. Hum Mol Genet (1998) 1.17
Paraoxon hydrolysis in human serum mediated by a genetically variable arylesterase and albumin. Am J Hum Genet (1984) 1.17
Selective expression of human X chromosome-linked green opsin genes. Proc Natl Acad Sci U S A (1992) 1.15
Increased frequency of thyroid autoantibodies in mothers of patients with Down's syndrome. Lancet (1965) 1.14
Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat (1996) 1.14
Mental retardation in methemoglobinemia due to diaphorase deficiency. N Engl J Med (1965) 1.13
Familial aggregation of coronary heart disease and its relation to known genetic risk factors. Am J Cardiol (1982) 1.12
Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: the need for practice guidelines. Genet Med (2001) 1.12
Hemolysis in glucose-6-phosphate dehydrogenase deficiency. Fed Proc (1972) 1.12
Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet (1992) 1.11
Evidence that the apolipoprotein E-genotype effects on lipid levels can change with age in males: a longitudinal analysis. Am J Hum Genet (1997) 1.11
Human glucose-6-phosphate dehydrogenase variants. Bull World Health Organ (1971) 1.10
Variants of red cell glucose-6-phosphate dehydrogenase among Asiatic Indians. Ann Hum Genet (1968) 1.10
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. Am J Hum Genet (1992) 1.06
Polymorphism in red photopigment underlies variation in colour matching. Nature (1992) 1.05
Preventing coronary heart disease: B vitamins and homocysteine. Circulation (1998) 1.04
The distribution of glucose-6-phosphate dehydrogenase deficiency in Greece. Am J Hum Genet (1966) 1.04
Atypical cholinesterase gene E1a: rarity in Negroes and most Orientals. Science (1968) 1.03
Medical and human genetics 1977: trends and directions. Am J Hum Genet (1978) 1.03
Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3. Hum Mol Genet (1993) 1.03
Measurable linkage between ocular albinism and Xg. Am J Hum Genet (1967) 1.03
Lower cognitive performance in normal older adult male twins carrying the apolipoprotein E epsilon 4 allele. Arch Neurol (1994) 1.03
Molecular genetics of apolipoproteins and coronary heart disease. Cold Spring Harb Symp Quant Biol (1986) 1.03
Adenosine deaminase: racial distribution and report of a new phenotype. J Med Genet (1970) 1.00
Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans. Proc Natl Acad Sci U S A (1990) 1.00
Lipoprotein lipase gene expression in THP-1 cells. Biochemistry (1989) 0.99
Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes. Blood (1967) 0.98
Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine. Proc Natl Acad Sci U S A (1986) 0.98
Werner's syndrome; caricature of aging. A genetic model for the study of degenerative diseases. Trans Assoc Am Physicians (1965) 0.97
Risk counselling in autosomal dominant disorders with undetermined penetrance. J Med Genet (1981) 0.97
Sequence divergence of the red and green visual pigments in great apes and humans. Proc Natl Acad Sci U S A (1994) 0.96
Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb (1994) 0.96
Clinical implications of glucose-6-phosphate dehydrogenase deficiency. Ann Intern Med (1966) 0.96
Visual pigment gene structure and expression in human retinae. Hum Mol Genet (1997) 0.96
Genetic influences on age-related change in total cholesterol, low density lipoprotein-cholesterol, and triglyceride levels: longitudinal apolipoprotein E genotype effects. Genet Epidemiol (1994) 0.96
Structural characterization of hemoglobin Tacoma. Biochemistry (1969) 0.95
Genetics of hemochromatosis. N Engl J Med (1979) 0.94
Effect of chronologic age on induction of cystathionine synthase, uroporphyrinogen I synthase, and glucose-6-phosphate dehydrogenase activities in lymphocytes. Proc Natl Acad Sci U S A (1981) 0.94
Gene therapy in the United States: a five-year status report. Hum Gene Ther (1996) 0.94
Seasonal changes in hormone-sensitive and lipoprotein lipase mRNA concentrations in marmot white adipose tissue. Am J Physiol (1992) 0.94
Gene frequencies at loci determining blood-group and serum-protein polymorphisms in two villages of northwestern Greece. Am J Hum Genet (1969) 0.93
Sounding board. Biased ascertainment and the natural history of diseases. N Engl J Med (1978) 0.91