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A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes.
OBJECTIVES To determine the risk of elevated total homocysteine (tHcy) levels for arteriosclerotic vascular disease, estimate the reduction of tHcy by folic acid, and calculate the potential… Expand
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.
- J. Goldstein, H. Schrott, W. Hazzard, E. Bierman, A. Motulsky
- The Journal of clinical investigation
- 1 July 1973
To assess the genetics of hyperlipidemia in coronary heart disease, family studies were carried out in 2520 relatives and spouses of 176 survivors of myocardial infarction, including 149… Expand
Human Genetics: Problems and Approaches
-History of Human Genetics -The Human Genome: Chromosomes -The Human Genome: Genes and DNA -Formal Genetics of Humans: Linkage Analysis and Gene Clusters -Formal Genetics of Humans: Multifactorial… Expand
Polymorphism in red photopigment underlies variation in colour matching
- J. Winderickx, D. Lindsey, E. Sanocki, D. Teller, A. Motulsky, S. Deeb
- Biology, Medicine
- 2 April 1992
GENETIC variation of human senses within the normal range probably exists but usually cannot be investigated in detail for lack of appropriate methods. The study of subtle perceptual differences in… Expand
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
- M. Dorschner, L. Amendola, +22 authors G. Jarvik
- Biology, Medicine
- American journal of human genetics
- 3 October 2013
The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no large-scale study has yet estimated the… Expand
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the… Expand
Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group
- E. Bookman, Aleisha A. Langehorne, +9 authors R. Luepker
- American journal of medical genetics. Part A
- 15 May 2006
Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for… Expand
Spectrophotometric assays for the enzymatic hydrolysis of the active metabolites of chlorpyrifos and parathion by plasma paraoxonase/arylesterase.
- C. Furlong, R. Richter, S. L. Seidel, L. Costa, A. Motulsky
- Chemistry, Medicine
- Analytical biochemistry
- 1 August 1989
Human serum plasma paraoxonase/arylesterase exhibits a genetic polymorphism for the hydrolysis of paraoxon. One allelic form of the enzyme hydrolyzes paraoxon slowly with a low turnover number and… Expand
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.
Study of very closely linked DNA variants at various loci has frequently shown linkage disequilibrium. We studied three closely linked RFLPs at the apolipoprotein AI-CIII locus. Two variants detected… Expand
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors
The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals… Expand