Search Results - "MOTULSKY, A G"
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Nutritional ecogenetics : Homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid
Published in American journal of human genetics (1996)“…In the search for genetic factors underlying premature coronary heart disease, most attention has been given to genes affecting lipids. However, coronary…”
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Hereditary Hemochromatosis: Gene Discovery and Its Implications for Population-Based Screening
Published in JAMA : the journal of the American Medical Association (08-07-1998)“…OBJECTIVE.— To evaluate the role of genetic testing in screening for hereditary hemochromatosis to help guide clinicians, policymakers, and researchers…”
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Genetically determined apo B levels and peak LDL density predict angiographic response to intensive lipid‐lowering therapy
Published in Journal of internal medicine (01-04-2006)“… Objective: Lipid‐lowering therapy (LL‐Rx) reduces coronary artery disease (CAD) but the response varies amongst individuals. We investigated the…”
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Preventing coronary heart disease: B vitamins and homocysteine
Published in Circulation (New York, N.Y.) (10-02-1998)Get full text
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Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype
Published in Nature genetics (01-05-1999)“…The X-linked red- and green-pigment genes are arranged in a head-to-tail tandem array. The colour-vision defect of deuteranomaly (in 5% of males of European…”
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Pleiotropic Genetic Effects on LDL Size, Plasma Triglyceride, and HDL Cholesterol in Families
Published in Arteriosclerosis, thrombosis, and vascular biology (01-10-1999)“…The interrelationships among low density lipoprotein (LDL) particle size, plasma triglyceride (TG), and high density lipoprotein cholesterol (HDL-C) are well…”
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A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease: Probable Benefits of Increasing Folic Acid Intakes
Published in JAMA : the journal of the American Medical Association (04-10-1995)“…Objective.—To determine the risk of elevated total homocysteine (tHcy) levels for arteriosclerotic vascular disease, estimate the reduction of tHcy by folic…”
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The glutathione S-transferase μ polymorphism as a marker for susceptibility to lung carcinoma
Published in Cancer research (Chicago, Ill.) (15-05-1993)“…Glutathione S-transferase (GST) enzymes detoxify carcinogens in tobacco smoke. Interindividual variation in GST function may be related to differences in risk…”
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Visual Pigment Gene Structure and Expression in Human Retinae
Published in Human molecular genetics (01-07-1997)“…We determined the genotypes of the X-chromosome-linked red/green color vision genes by a novel PCR/SSCP-based method and assessed expression by mRNA analysis…”
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Role of genetic polymorphism of human plasma paraoxonase/arylesterase in hydrolysis of the insecticide metabolites chlorpyrifos oxon and paraoxon
Published in American journal of human genetics (01-09-1988)“…Plasma paraoxonase is a polymorphic enzyme that hydrolyzes paraoxon, the neurotoxic, active metabolite of the insecticide parathion. This enzyme is specified…”
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Screening for Genetic Diseases
Published in The New England journal of medicine (01-05-1997)“…With better knowledge of the genetics of various diseases, testing for the underlying defects with the use of biochemical and molecular techniques is…”
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Severity of color vision defects: electroretinographic (ERG), molecular and behavioral studies
Published in Vision research (Oxford) (01-11-1998)“…Earlier research on phenotype/genotype relationships in color vision has shown imperfect predictability of color matching from the photopigment spectral…”
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Predictive genetic diagnosis
Published in American journal of human genetics (01-10-1994)Get full text
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The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes
Published in American journal of human genetics (01-01-1988)“…Study of very closely linked DNA variants at various loci has frequently shown linkage disequilibrium. We studied three closely linked RFLPs at the…”
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Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency
Published in American journal of human genetics (01-08-1992)“…Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived…”
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Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene
Published in Vision research (Oxford) (01-02-1999)“…Many subjects despite having only a single X-linked pigment gene (single-L/M-gene subjects) are able to make chromatic discriminations by Rayleigh matching,…”
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The advent of the 'unpatients'
Published in Nature medicine (01-06-1996)“…Predictive diagnosis by molecular methods will change the scientific basis of prognostics. At the same time, it will change the ethical dimensions of the…”
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Cardiovascular disease mortality in familial forms of hypertriglyceridemia : A 20-year prospective study
Published in Circulation (New York, N.Y.) (20-06-2000)“…Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are 2 of the most common familial forms of hyperlipidemia. There is a paucity…”
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Molecular Patterns of X Chromosome-Linked Color Vision Genes among 134 Men of European Ancestry
Published in Proceedings of the National Academy of Sciences - PNAS (01-02-1989)“…We used Southern blot hybridization to study X chromosome-linked color vision genes encoding the apoproteins of red and green visual pigments in 134 unselected…”
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