Arno Motulsky
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Pioneer of medical genetics
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#1620
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#499
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Genetics
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#98
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Biology
Arno Motulsky's Degrees
- Doctorate Medicine University of Geneva
- PhD Biochemistry University of Washington
Why Is Arno Motulsky Influential?
(Suggest an Edit or Addition)According to Wikipedia, Arno Gunther Motulsky was a professor of medical genetics and genome sciences at the University of Washington. Motulsky is considered a founder of the field of medical genetics. He is also considered the "father of pharmacogenetics", and is credited with coining the term.[2]
Arno Motulsky's Published Works
Published Works
- A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. (1995) (3845)
- Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. (1973) (1427)
- Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. (1966) (804)
- Human Genetics: Problems and Approaches (1979) (719)
- Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. (1973) (588)
- 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. (1967) (396)
- Drug reactions enzymes, and biochemical genetics. (1957) (369)
- Actionable, pathogenic incidental findings in 1,000 participants' exomes. (2013) (359)
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
- Myocardial infarction in the familial forms of hypertriglyceridemia. (1976) (307)
- Hereditary hemochromatosis: gene discovery and its implications for population-based screening. (1998) (290)
- The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. (1988) (262)
- Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. (2000) (250)
- Spectrophotometric assays for the enzymatic hydrolysis of the active metabolites of chlorpyrifos and parathion by plasma paraoxonase/arylesterase. (1989) (229)
- Polymorphism in red photopigment underlies variation in colour matching (1992) (222)
- Role of genetic polymorphism of human plasma paraoxonase/arylesterase in hydrolysis of the insecticide metabolites chlorpyrifos oxon and paraoxon. (1988) (220)
- The genetic basis of common diseases. (2002) (217)
- Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. (1996) (213)
- Human glucose-6-phosphate dehydrogenase variants. (1971) (205)
- Frequency of sickling disorders in U.S. blacks. (1973) (203)
- The glutathione S-transferase mu polymorphism as a marker for susceptibility to lung carcinoma. (1993) (203)
- Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group (2006) (203)
- Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors (2002) (179)
- Serum paraoxonase and its influence on paraoxon and chlorpyrifos-oxon toxicity in rats. (1990) (177)
- Preventing coronary heart disease: B vitamins and homocysteine. (1998) (167)
- Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies. (1983) (166)
- The Use of Chromium as a Red‐cell Tag * (1955) (160)
- Priorities and standards in pharmacogenetic research (2005) (146)
- Cryo- and macroglobulinemia; electrophoretic, ultracentrifugal and clinical studies. (1956) (142)
- Jewish diseases and origins (1995) (140)
- Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. (1992) (138)
- Glutathione S-transferase and epoxide hydrolase activity in human leukocytes in relation to risk of lung cancer and other smoking-related cancers. (1992) (126)
- Hyperlipidemia in coronary heart disease. 3. Evaluation of lipoprotein phenotypes of 156 genetically defined survivors of myocardial infarction. (1973) (118)
- DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME. (1964) (115)
- Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. (1989) (114)
- Familial aggregation of coronary heart disease and its relation to known genetic risk factors. (1982) (112)
- Erythrokinetics in pernicious anemia. (1956) (109)
- Small, Dense LDL and Elevated Apolipoprotein B Are the Common Characteristics for the Three Major Lipid Phenotypes of Familial Combined Hyperlipidemia (2003) (106)
- Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3. (1993) (101)
- Selective expression of human X chromosome-linked green opsin genes. (1992) (100)
- Gene therapy in the United States: a five-year status report. (1996) (99)
- Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. (1994) (97)
- HEREDITARY RED CELL TRAITS AND MALARIA. (1964) (97)
- Defective colour vision associated with a missense mutation in the human green visual pigment gene (1992) (93)
- Negro Variant of Glucose-6-Phosphate Dehydrogenase Deficiency (A-) in Man (1967) (91)
- Frequency and hereditability of asthma and allergic rhinitis in college students. (1959) (91)
- Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype (1999) (91)
- Anemia and the spleen. (1958) (89)
- COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. (1965) (88)
- Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27. (1987) (87)
- Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. (1992) (86)
- Increased frequency of thyroid autoantibodies in mothers of patients with Down's syndrome. (1965) (85)
- Pleiotropic genetic effects on LDL size, plasma triglyceride, and HDL cholesterol in families. (1999) (82)
- Visual pigment gene structure and expression in human retinae. (1997) (77)
- Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism. (1972) (76)
- HUMAN EMBRYONIC HEMOGLOBINS. (1964) (76)
- Current concepts in genetics. The genetic hyperlipidemias. (1976) (76)
- Exploding the Gene Myth: How Genetic Information Is Produced and Manipulated by Scientists, Physicians, Employers, Insurance Companies, Educators, and Law Enforcers (1995) (75)
- Molecular genetics of apolipoproteins and coronary heart disease. (1986) (75)
- Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities. (1975) (75)
- Aplastic crisis in sickle cell anemia; a study of its mechanism and its relationship to other types of hemolytic crises. (1950) (74)
- X-linked high myopia associated with cone dysfunction. (2004) (74)
- Sequence divergence of the red and green visual pigments in great apes and humans. (1994) (72)
- The advent of the ‘unpatients’ (1996) (70)
- A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. (1969) (69)
- Population genetic studies in the Congo. I. Glucose-6-phosphate dehydrogenase deficiency, hemoglobin S, and malaria. (1966) (67)
- Sounding board. Biased ascertainment and the natural history of diseases. (1978) (66)
- Hashimoto's disease in Turner's syndrome with isochromosome X. (1963) (65)
- Assessing Genetic Risks (1994) (64)
- Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. (1984) (63)
- The No. 17–18 (E) trisomy syndrome (1963) (62)
- OBSERVATIONS ON CROSS CIRCULATION IN MAN. (1965) (58)
- Lymph nodes in rheumatoid arthritis. (1952) (57)
- Paraoxon hydrolysis in human serum mediated by a genetically variable arylesterase and albumin. (1984) (57)
- Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. (1998) (56)
- Mutation nomenclature: Nicknames, systematic names, and unique identifiers (1996) (55)
- Controller Genes in Synthesis of Human Hæmoglobin (1962) (55)
- Erythrokinetics: quantitative measurements of red cell production and destruction in normal subjects and patients with anemia. (1956) (54)
- 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? (1981) (53)
- 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. (1990) (53)
- Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study. (2001) (53)
- Paper electrophoresis of abnormal hemoglobins and its clinical applications; a simple semiquantitative method for the study of the hereditary hemoglobinopathies. (1954) (53)
- Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. (1983) (52)
- Proceed With Caution: Predicting Genetic Risks in the Recombinant DNA Era (1990) (52)
- Splenic infarction in sicklemia during airplane flight: pathogenesis, hemoglobin analysis and clinical features of six cases. (1956) (51)
- Impact of genetic manipulation on society and medicine. (1983) (50)
- Equal proportion of adult male and female homozygous for the 677C → T mutation in the methylenetetrahydrofolate reductase polymorphism (2005) (49)
- Linkage studies in a large kindred with familial hypercholesterolemia. (1974) (48)
- Restricted variation in the glycolytic enzymes of human brain and erythrocytes. (1973) (48)
- Vogel and Motulsky's Human Genetics (2010) (47)
- Predominance of Hemoglobin Gower 1 in Early Human Embryonic Development (1966) (47)
- Plasma lipid levels and coronary heart disease in adult relatives of newborns with normal and elevated cord blood lipids. (1974) (46)
- Thrombotic thrombocytopenic purpura. II. Studies on the hemolytic syndrome in this disease. (1950) (45)
- The upper limb-cardiovascular syndrome. An autosomal dominant genetic effect on embryogenesis. (1965) (45)
- A partial cDNA clone for human apolipoprotein B. (1985) (44)
- Adenosine deaminase: racial distribution and report of a new phenotype. (1970) (43)
- CURRENT CONCEPTS OF THE GENETICS OF THE THALASSEMIAS. (1964) (43)
- Theophylline metabolism: Variation and genetics (1984) (42)
- Werner syndrome: entering the helicase era. (1996) (42)
- The life span of the elliptocyte; hereditary elliptocytosis and its relationship to other familial hemolytic diseases. (1954) (42)
- Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network (2015) (42)
- Serine/alanine amino acid polymorphism of the L and M cone pigments: Effects on rayleigh matches among deuteranopes, protanopes and color normal observers (1993) (41)
- Species Differences in Serum Paraoxonase Correlate with Sensitivity to Paraoxon Toxicity (1987) (41)
- Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines (1999) (41)
- Abnormal hemoglobins in human populations. (1968) (41)
- A Primate Genome Project Deserves High Priority (2000) (41)
- Public health and long-term genetic implications of intrauterine diagnosis and selective abortion. (1971) (40)
- Studies on the pathogenesis of splenic anemia. (1956) (40)
- Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. (2013) (40)
- Low-Density Lipoprotein Particle Size Loci in Familial Combined Hyperlipidemia: Evidence for Multiple Loci From a Genome Scan (2004) (39)
- 'Drug reactions, enzymes, and biochemical genetics': 50 years later. (2007) (38)
- Sudden infant death syndrome: normal QT interval on ECGs of relatives. (1977) (38)
- HUMAN GENETICS (1961) (38)
- Hazards of indiscriminate screening for sickling. (1971) (37)
- Screening for genetic diseases. (1997) (36)
- Effect of chronologic age on induction of cystathionine synthase, uroporphyrinogen I synthase, and glucose-6-phosphate dehydrogenase activities in lymphocytes. (1981) (34)
- Autosomal Phosphogluconic Dehydrogenase Polymorphism in the Cat (Felis catus L.) (1967) (34)
- Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. (1968) (33)
- Population genetic studies in the Congo. 3. Blood groups (ABO, MNSs, Rh, Jsa). (1966) (33)
- EXCEPTIONAL SEX-CHROMATIN PATTERN IN MALE PSEUDOHERMAPHRODITISM WITH XX/XY/XO MOSAICISM (1962) (33)
- Genetics of hyperlipidemia in coronary heart disease. (1972) (33)
- Hypertension and the genetics of red cell membrane abnormalities. (1987) (33)
- Production of Foetal Haemoglobin in Marrow Cultures of Human Adults (1968) (33)
- Developmental Variation in the Isoenzymes of Human Liver and Gastric Alcohol Dehydrogenase (1971) (33)
- Severity of color vision defects: electroretinographic (ERG), molecular and behavioral studies (1998) (31)
- The 1985 Nobel Prize in physiology or medicine. (1986) (31)
- Genetic and nongenetic sources of variation in phospholipid transfer protein activity[S] (2010) (31)
- Hemoglobin tacoma--a beta-chain variant associated with increased hb A2. (1965) (31)
- Mental retardation in methemoglobinemia due to diaphorase deficiency. (1965) (31)
- If I had a gene test, what would I have and who would I tell? (1999) (31)
- Tietze's syndrome; cause of chest pain and chest wall swelling. (1953) (30)
- Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment (2003) (29)
- Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes. (1967) (29)
- Genetics of complex diseases (2006) (29)
- Structural characterization of hemoglobin Tacoma. (1969) (29)
- Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene (1999) (29)
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, Thalassaemia, and Abnormal Haemoglobins in the Philippines (1964) (29)
- Variants of red cell ǵlucose‐6‐p‐hosphate dehydroǵenase amonǵ Asiatic Indians (1968) (29)
- Clinical implications of glucose-6-phosphate dehydrogenase deficiency. (1966) (28)
- The developing (Coombs) test in spherocytic hemolytic anemias; its significance for the pathophysiology of spherocytosis and splenic hemolysis. (1949) (28)
- Hereditary spherocytosis in the deer mouse. Its similarity to the human disease. (1960) (28)
- Genetic and Hæmatological Significance of Hæmoglobin H (1956) (28)
- Hemoglobin H as an acquired defect of alpha-chain synthesis. Report of two cases. (1968) (27)
- GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY, HqMOLYTIC DISEASE OF THE NEWBORN, AND MALARIA (1961) (27)
- Vogel and Motulsky's Human Genetics: Problems and Approaches (1986) (27)
- From pharmacogenetics and ecogenetics to pharmacogenomics. (2002) (27)
- Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine. (1986) (26)
- Aberrant axillary breast tissue: A report of a family with six affected women in two generations (1976) (26)
- A BIOCHEMICAL AND GENETIC APPROACH TO ALCOHOLISM (1972) (26)
- The Turner syndrome with isochromosome X and Hashimoto's thyroiditis. (1967) (26)
- Atypical Cholinesterase Gene E1a: Rarity in Negroes and Most Orientals (1968) (26)
- BIOCHEMICAL GENETICS OF GLUCOSE‐6‐PHOSPHATE DEHYDROGENASE VARIATION * (1968) (25)
- Measurable linkage between ocular albinism and Xg. (1967) (25)
- The distribution of glucose-6-phosphate dehydrogenase deficiency in Greece. (1966) (25)
- Population screening in hereditary hemochromatosis. (2000) (25)
- Response of serum and red blood cell folate concentrations to folic acid supplementation depends on methylenetetrahydrofolate reductase C677T genotype: results from a crossover trial. (2013) (24)
- Pharmacogenetics, pharmacogenomics and ecogenetics (2006) (23)
- Homozygous hemoglobin C: a new hereditary hemolytic disease. (1954) (23)
- A Genetic study of hypoalphalipoproteinemia (1984) (23)
- Hemoglobin-Seattle (α2Aβ276 Glu): An Unstable Hemoglobin Causing Chronic Hemolytic Anemia (1970) (23)
- Erythrocyte carbohydrate metabolism in hereditary hemolytic anemias (1955) (23)
- Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia Published, JLR Papers in Press, August 16, 2003. DOI 10.1194/jlr.M300272-JLR200 (2003) (22)
- Absence of Cis Delta Chain Synthesis in (δ β) Thalassemia (F-thalassemia) (1966) (21)
- Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia (2005) (21)
- Hereditary hemochromatosis: Perspectives of public health, medical genetics, and primary care (2003) (20)
- Molecular genetics of human color vision (1996) (20)
- Hereditary nonspherocytic hemolytic anemia presenting as hemolytic disease of the newborn infant. (1954) (20)
- Studies on anti-V; a recently discovered Rh antibody. (1957) (19)
- Hemolysis in glucose-6-phosphate dehydrogenase deficiency. (1972) (19)
- Gene frequencies at loci determining blood-group and serum-protein polymorphisms in two villages of northwestern Greece. (1969) (19)
- Red-Green Color Vision Defects (2015) (19)
- Genome-environment interactions and prospective technology assessment: evolution from pharmacogenomics to nutrigenomics and ecogenomics. (2009) (19)
- Molecular basis of abnormal red-green color vision: a family with three types of color vision defects. (1988) (18)
- GENETIC PROGNOSIS AND COUNSELING. (1964) (18)
- Werner's syndrome; caricature of aging. A genetic model for the study of degenerative diseases. (1965) (18)
- COMMITTEE ON ASSESSING GENETIC RISKS (1994) (18)
- Treatment of hereditary spherocytosis in Peromyscus by radiation and allogeneic bone marrow transplantation. (1967) (18)
- Nutrition and genetic susceptibility to common diseases. (1992) (18)
- HUMAN EMBRYONIC HAEMOGLOBINS. (1964) (18)
- Increased frequency of coronary heart disease in relatives of wives of myocardial infarct survivors: assortative mating for lifestyle and risk factors? (1984) (17)
- Homozygous hemoglobin C disease; report of a case with studies on the pathophysiology and neonatal formation of hemoglobin C. (1955) (17)
- PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity1[S] (2015) (17)
- Structural characterization of hemoglobin NSeattle:α2Aβ261Lys→Glu (1968) (17)
- Structural characterization of hemoglobin NSeattle:α2Aβ261Lys→Glu (1968) (17)
- Structural characterization of hemoglobin NSeattle:α2Aβ261Lys→Glu (1968) (17)
- Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria (2011) (17)
- Formal Genetics of Man (1946) (16)
- Joseph Adams (1756-1818): a forgotten founder of medical genetics. (1959) (16)
- Risk counselling in autosomal dominant disorders with undetermined penetrance. (1981) (16)
- Human genetics. Mapping human history. (2002) (15)
- Chapter 7 – Biochemical Genetics and the Evolution of Human Behavior (1972) (15)
- Back door to eugenics (1991) (15)
- Linkage and association of phospholipid transfer protein activity to LASS4[S] (2011) (14)
- VARIANTS OF GLUCOSE‐6‐PHOSPHATE DEHYDROGENASE * (1971) (14)
- Erythrokinetics: quantitative measurements of red cell production and destruction in normal subjects and patients with anemia. (1956) (14)
- Genetic variation and human disease: The role of natural selection (1999) (13)
- Genetic and haematological significance of haemoglobin H. (1956) (13)
- Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes (1989) (13)
- Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility, and absence of hemolysis. (1972) (13)
- Human genetic variation and nutrition. (1987) (13)
- Genetics of protan and deutan color-vision anomalies: an instructive family. (1969) (12)
- THE NO. 17-18 (E) TRISOMY SYNDROME. STUDIES ON CYTOGENETICS, DERMATOGLYPHICS, PATERNAL AGE, AND LINKAGE. (1963) (12)
- Human genetics, society, ad medicine. (1968) (12)
- Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families (2010) (12)
- Genetic aspects of familial hypercholesterolemia and its diagnosis. (1989) (12)
- Mutation: Spontaneous Mutation in Germ Cells (1997) (12)
- THE GENETICS OF ABNORMAL DRUG RESPONSES (1965) (11)
- The importance of gene order in expression of the red and green visual pigment genes and in color vision (2001) (11)
- Medical and human genetics 1977: trends and directions. (1978) (11)
- Hereditary persistence of fetal hemoglobin, beta thalassemia, and the hemoglobin delta-beta locus: further family data and genetic interpretations. (1975) (11)
- Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia. (2008) (11)
- Social, Legal, and Ethical Implications of Genetic Testing (1994) (10)
- Hereditary spherocytosis in mouse and man. (1956) (10)
- Predictive genetic diagnosis. (1994) (10)
- Comprar Vogel and Motulsky's Human Genetics · Problems and Approaches | Speicher, Michael | 9783540376538 | Springer (2010) (10)
- The Great Adventure of an American Human Geneticist. (2016) (10)
- Blood Coagulation Factors I, II, V, VII, VIII, IX, X, XI and XII in Twins (1972) (9)
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, Thalassaemia, and Abnormal Haemoglobins in Taiwan (1965) (9)
- Nomenclature of glucose 6-phosphate dehydrogenase in man. (1967) (9)
- A Meta-Analysis of Plasma Homocysteine as a Risk Factor for Arteriosclerotic Vascular Disease and the Potential Preventive Role of Folic Acid (1997) (9)
- Bioethical problems in pharmacogenetics and ecogenetics. (1978) (9)
- Anemia and the spleen. (1958) (9)
- Pharmacogenetics and ecogenetics in 1991. (1991) (9)
- DOWN'S SYNDROME: TRISOMY AND A DE-NOVO TRANSLOCATION IN A FAMILY. (1963) (9)
- WERNER'S SYNDROME: CHROMOSOMES, GENES, AND THE AGEING PROCESS (1962) (8)
- Multifactorial inheritance and heritability in pharmacogenetics. (1978) (8)
- Marrow transplantation in newborn mice with hereditary spherocytosis: a model system. (1962) (8)
- Pharmacogenetics and mental disease (1974) (8)
- Pharmacogenetics: Clinical and Experimental Studies in Man (1975) (8)
- Abnormal Hæmoglobins in the Kasai Province of the Belgian Congo (1956) (8)
- Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men (1995) (8)
- Drugs and genes. (1969) (8)
- Blood and Serum Groups in Taiwan (1965) (8)
- Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels (1992) (8)
- Genetic politics. The limits of biological control. (1981) (7)
- Blood Groups in the Philippines (1964) (7)
- Personnel Issues in Human Genetics (1994) (7)
- Human genetic variation and its impact on public health and medicine (1999) (7)
- Enhancing recruitment of healthy African American volunteers in a city with a small African American community: results from a dietary supplement crossover trial. (2007) (7)
- Gene Action: Genetic Diseases (1997) (6)
- Historical genetics. (1979) (6)
- Research and Policy Agenda (1994) (6)
- Pharmacogenetics and Ecogenetics (1978) (6)
- General principles of medical genetics (1962) (6)
- Integration of Pharmacogenomics into Medical Practice (2003) (6)
- Familial Multifocal Fibrosclerosis (2020) (6)
- Glucose-6-phosphate dehydrogenase Madrona: a slow electrophoretic glucose-6-phosphate dehydrogenase variant with kinetic characteristics similar to those of normal type. (1968) (6)
- Blood groups and secretion of blood group substances. Comparison of allergic with nonallergic persons in a Pacific Northwest college population. (1959) (6)
- Experimental production of red cell autoimmunization (1954) (6)
- Host and environmental effects on plasma apolipoprotein B (1993) (6)
- The bone marrow in metastatic malignant melanoma. (1953) (5)
- Absence of cis delta chain synthesis in (sigma beta) thalassemia (F-thalassemia). (1966) (5)
- Population Genetics: Consanguinity, Genetic Drift (1997) (5)
- Genetics of hemochromatosis. (1979) (5)
- Genetic research in coronary heart disease. (1984) (5)
- RENAL INVOLVEMENT IN HEREDITARY MULTIPLE OSTEOLYSIS (1979) (5)
- Hypertension: some unanswered questions. (1985) (5)
- Ecogenetics: Historical Perspectives (2006) (5)
- Societal problems in human and medical genetics. (1989) (5)
- Homozygous hemoglobin C: A new hereditary hemolytic disease (1954) (5)
- Human genetic individuality and risk assessment. (1988) (5)
- Molecular genetics and medicine. A call for papers. (1992) (4)
- DRUGS, ANESTHESIA AND ABNORMAL HEMOGLOBINS * (1968) (4)
- GENETICS OF HUMAN HEMOGLOBINS: AN OVERVIEW * (1974) (4)
- Evolutionary origins of human proteins. (1965) (4)
- Recombinant DNA analysis of multifactorial disease. (1988) (4)
- Presidential Address. Human and Medical Genetics: Past, Present, and Future (1987) (4)
- Genetic Approaches to Common Diseases (1991) (4)
- Hemoglobin-Seattle (alpha-2 beta-2 76-Glu): an unstable hemoglobin causing chronic hemolytic anemia. (1970) (4)
- Brave New World? (1974) (4)
- The Human Genome: Chromosomes (1997) (4)
- Levels of expression of the red, green and green-red hybrid pigment genes in the human retina (1997) (4)
- Laboratory Issues in Human Genetics (1994) (4)
- History of Human Genetics (2010) (4)
- Genetics and human behavior. (2001) (4)
- Some Future Directions in Medical Genetics (2000) (4)
- A common amino-acid substitution (cys203 to arg203) may impair green visual pigment function (1992) (4)
- Structural characterization of hemoglobin-N-Seattle. (1968) (4)
- Genetics and Atherosclerosis (1974) (4)
- The Significance of Genetic Disease (1973) (4)
- New Phenotype* (2006) (4)
- Inherited primary disorders of cardiac rhythm and conduction. (1983) (3)
- Molecular Genetics of Hypertension (1992) (3)
- Birth defects : proceedings of the fourth International Conference, Vienna, Austria, 2-8 September, 1973 ; sponsored by the National Foundation, March of Dimes and organized by International Medical Congress, ltd. (1974) (3)
- The HLA complex and disease: some interpretations and new data in cardiomyopathy. (1979) (3)
- Pharmacogenetics and ecogenetics: the problem and its scope. (1978) (3)
- Folic Acid Fortification of Food-Reply (1996) (3)
- Correlation between Rayleigh match range in protans and deutans and the difference in λmax between hybrid and normal pigments (1995) (3)
- Methemoglobin reduction and the inactive X hypothesis. (1966) (3)
- Mutation: Induction by Ionizing Radiation and Chemicals (1997) (3)
- Adverse effects of raised environment temperature on the expression of hereditary spherocytosis in deer mice. (1966) (3)
- Brain, genetics, and behavior. (1971) (3)
- Medical Genetics 1958-1960: An Annotated Review (1962) (3)
- Allelic association of human dopamine D2 receptor gene in alcoholism. (1990) (3)
- Studies on anti-V, a new potentially dangerous blood group antibody. (1958) (3)
- Governmental Responsibilities in Genetic Diseases (1980) (3)
- RFLPs for the human alphafetoprotein (AFP), at 4q11-4q13. (1985) (3)
- Red Cell Sodium-Lithium Countertransport in Hypertension (1984) (3)
- Genetics and environmental health. (1968) (3)
- Environmental Mutagenesis and Disease in Human Populations (1984) (3)
- Genetics of Hypertension – An Overview (1991) (3)
- Hereditary nonspherocytic hemolytic disease; a study of a singular familial hemolytic syndrome. (1954) (3)
- AIDS: A Guide for the Primary Physician (1988) (2)
- Department of Health and Human Services, National Institutes of Health, Recombinant DNA Advisory Committee. Minutes of Meeting, December 1-2, 1994 (1995) (2)
- Ecogenetics: Genetic predisposition to the toxic effects of chemicals (1992) (2)
- Problems of Screening for Genetic Disease (1975) (2)
- Polymorphisms in the genes encoding the human red and green pigment proteins (1991) (2)
- Serine alanine polymorphism in deuteranopes and protanopes is correlated with rayleigh matches (1992) (2)
- Mutation: Somatic Mutation, Cancer, and Aging (1997) (2)
- Structure-function relationships in human red/green color vision (1993) (2)
- Health consequences of ecogenetic variation (2010) (2)
- 2010 Victor A. McKusick Leadership Award introduction and address. (2011) (2)
- Formal Genetics of Humans: Multifactorial Inheritance and Common Diseases (1997) (2)
- Formal Genetics of Humans: Modes of Inheritance* (2010) (2)
- Biochemical Genetics in Medicine 1 (1967) (2)
- 1999 ASHG Award for Excellence in Education. Some future directions in medical genetics. (2000) (2)
- Introduction: The New Genetics and Health Care (1994) (2)
- Color Vision Defects (2013) (2)
- Medical genetics and adoption. (1971) (2)
- Computer simulation of evolutionary trends in an X linked trait. Application to glucose-6-phosphate dehydrogenase deficiency in man. (1967) (2)
- MUTATIONS AND SEX-LINKED THROMBOCYTOPENIA (1960) (2)
- The ‘new genetics’ in blood and cardiovascular research: applications to prevention and treatment (1984) (2)
- Significance of genetic diseases for population studies. (1973) (2)
- Genetic Testing and Assessment (1994) (1)
- Familial Hypercholesterolemia in a Large Kindred (2020) (1)
- Status of "familial combined hyperlipidemia". (1984) (1)
- Individual differences in rayleigh matches are related to differences in L cone pigment structure (1992) (1)
- Pharmacogenetics of Theophylline (1979) (1)
- Humangenetik, band 1/3: Protein-und enzymvarianten (1977) (1)
- Predominance of hemoglobin Gower 1 in early human embryonic life (1966) (1)
- A German‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs (2018) (1)
- Gene Action: Developmental Genetics (1997) (1)
- Comment on “Multidimensional Results Reporting to Participants in Genomic Studies: Getting It Right” (2011) (1)
- Abstracts of papers : 4th International Conference on Birth Defects, Vienna, Austria, 2-8 September, 1973 (1973) (1)
- Antibody to HTLV-III/LAV in serum from Central Africa in 1959 [abstract] (1985) (1)
- Some red cell enzyme phenotype frequencies in Chinese (1973) (1)
- Recombinant DNA Advisory Committee. Minutes of meeting September 12-13, 1994 (1995) (1)
- THE ROLE OF GENETICS AS A RISK FACTOR IN CARDIOVASCULAR DISEASE (1992) (1)
- The William Allan Memorial Award presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics. (1978) (1)
- Twenty-year cardiovascular disease mortality in the familial forms of hypertriglyceridemia (2000) (1)
- Genetics of Neurological Disorders (1985) (1)
- The Human Genome: Genes and DNA (1997) (1)
- Genetic control mechanisms in man and other mammals. (1970) (1)
- Issues in Genetic Counseling (1994) (1)
- Genomewide Scan for Quantitative Trait Loci Influencing Low-density Lipoprotein Size and Plasma Triglyceride in Familial Hypertriglyceridemia (2003) (1)
- General remarks on genetic factors in anesthesia (2004) (1)
- Financing of Genetic Testing and Screening Services (1994) (1)
- The William Allan Memorial Award Lecture. Human and medical genetics: a scientific discipline and an expanding horizon. (1971) (1)
- Molecular studies on genotype-phenotype relationships in human red/green color-vision defects (1991) (1)
- Hyperlipidemia in Survivors of Myocardial Infarction: Relationship between Genetic Classification and Lipoprotein Phenotype (1974) (1)
- Special award lecture: biochemical genetics and psychiatry. (1975) (1)
- Screening for sickle cell hemoglobinopathy and thalassemia. (1973) (1)
- Biochemical genetics in medicine. (1966) (1)
- Family Detection of Genetic Diseases (1975) (1)
- Genetics of Color Vision Defects (2014) (1)
- Linkage Analysis for Monogenic Traits (2010) (1)
- Medical genetics in the Pacific area. (1962) (1)
- 2001 William Allan Award Address. Introductory speech for Charles J. Epstein. (2002) (1)
- Quantitative aspects of erythropoiesis in man. (1956) (1)
- Genetic engineering, medicine and medical genetics. (1984) (1)
- Behavioral Genetics: Affective Disorders and Schizophrenia (1997) (0)
- Riskcounselling inautosomal dominant disorders withundetermined penetrance (1981) (0)
- Modification in publication of articles dealing with genetic polymorphisms (2004) (0)
- Population Genetics: Description and Dynamics (1997) (0)
- The Genetic and Sociobiologic Paradigms (1981) (0)
- BIOCHEMICAL GENETICS OF GLUCOSE‐6‐PHOSPHATE DEHYDROGENASE VARIATION * (1968) (0)
- Moen, Elizabeth, Elise Boulding, Jane Lillydahl, and Risa Palm. Women and the Social Costs of Economic Development: Two Colorado Case Studies. Boulder, CO: Westview Press, 1981. xvi + 215 pp.; $30.00 (hb); ISBN 0-89158-594-X (1981) (0)
- A New Form of Hereditary Kyphoscoliosis. (1965) (0)
- Sociobiology: Sense or nonsense? (1980) (0)
- A human genetecist's odyssey (1994) (0)
- Perspectives in Human Genetics (2006) (0)
- Vogel and Motulsky's Human Genetics-ReadingSample (2016) (0)
- Human biochemical genetics. By H. Harris. Cambridge University Press. 1959 (1961) (0)
- Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine (1995) (0)
- Behavioral Genetics: Differences Between Populations (1997) (0)
- Genetics by nation. (1993) (0)
- Susceptibility to Lung Carcinoma-Transferase μ Polymorphism as a Marker for S The Glutathione Updated Version (2006) (0)
- Book Review:Annual Review of Medicine. Volume 9. David A. Rytand, William P. Creger (1959) (0)
- Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia. (2000) (0)
- HUMAN BEHAVIOR, GENES AND SOCIETY (1972) (0)
- The George M. Kober lecture: a genetical view of modern medicine. (1977) (0)
- Medical genetics. (1989) (0)
- Charles Joseph Epstein, M.D., 1933–2011, in memoriam. (2011) (0)
- Morrill, Richard L. Teaching Values in College. San Francisco, CA: Jossey-Bass Publishers, 1980. xx + 169 pp.; $13.95 (hb); ISBN 0-87589-475-5 (1981) (0)
- Effects of antenatal diagnosis and selective abortion on frequencies of genetic disorders. (1980) (0)
- Genetic Counseling and Prenatal Diagnosis. Human Genome Project (1997) (0)
- General Conclusions and Future Directions (2005) (0)
- Evolution Sequence divergence of the red and green visual pigments in great apes and humans ( higher primates / red and green opsins ) (0)
- Localization by genome scan of two large QTLs influencing HDL levels in FCHL pedigrees with exploration of their relationship to triglyceride levels (2002) (0)
- Glucose-6-Phosphate Dehydrogenase ( G 6 PD ) Deficiency , Thalassaemia , and Abnormal Haemoglobins in the Philippines * t (0)
- Milunsky, Aubrey, and George J. Annas, eds. Genetics and the Law II. New York: Plenum Press, 1980. xviv + 480 pp.; $22.50; ISBN 0-306-40388-9 (1981) (0)
- The Statue Within: An Autobiography (1988) (0)
- Significance of giant follicular hyperplasia in the lymphadenopath of rheumatoid arthritis. (1951) (0)
- Introductory Speech for Charles J. Epstein * * Previously presented at the annual meeting of The Ame (2002) (0)
- Letter from Arno G. Motulsky to Joshua Lederberg (1968) (0)
- Editorial: Pharmacogenetics and mental disease. (1974) (0)
- Dr. Dr. h. c. Heinz Karger (1959) (0)
- Modern medical genetics (1986) (0)
- James Van Gundia Neel, papers, ca. 1935-1999 (2014) (0)
- A human geneticist's odyssey (1994) (0)
- OntheFamilial Predisposition toFavism (1966) (0)
- A new hereditary hemolytic disease. (1954) (0)
- Genetic Aspects of Hemoglobins and Red Cell Enzymes. (1971) (0)
- Behavioral Genetics: Research Strategies and Examples (1997) (0)
- Index autorum ad Vol. 17 (1967) (0)
- INVITED EDITORIAL Predictive Genetic Diagnosis (2007) (0)
- Genetic Manipulations and the Biological Future of the Human Species (1997) (0)
- Chronicle of the WHO Challenge of Atomic Energy (1958) (0)
- Editorial: Prenatal diagnosis and genetic counseling. (1976) (0)
- Genetics and environment in "alcoholism". (1987) (0)
- Figure 4. [Typical gene clusters associated with...]. (2015) (0)
- Book Review:Genetic Variation and Disorders in Peoples of African Origin. James E. Bowman, Robert F. Murray, Jr. (1992) (0)
- Arteriosclerosis: the first 10 years. (1990) (0)
- Genetic doomsaying: the fears are groundless. (1979) (0)
- Consanguinity and marriage. (1959) (0)
- Figure 1, [A. The light absorption spectra...]. (2015) (0)
- Genes and molecules in human health and disease: Human Molecular Genetics by T. Strachan and A.P. Read Bios Scientific Publishers, 1996. £29.95 pbk (xiv and 609 pages) ISBN 1 872748 69 4 (1996) (0)
- Public Education in Genetics (1994) (0)
- DISCUSSION1 THE MENDELIAN HYPERLIPIDEMIAS (1984) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Red-Green Color Vision Defects]. (2015) (0)
- 14 Targets for Gene Therapy (1999) (0)
- Figure 2. [Absorption spectra of retinal cone...]. (2015) (0)
- Molecular genetics of human serum albumin : Restriction enzyme fragment length polymorphisms and analbuminemia ( human chromosome 4 markers / DNA variants / alloalbuminemia / prenatal diagnosis ) (1999) (0)
- Vernon M. (1968) (0)
- Hemoglobin tacoma — A β-chain variant (2004) (0)
- Bioethical problems in pharmacogenetics and ecogenetics. (1978) (0)
- Minutes of the September 9–10, 1993 Recombinant DNA Advisory Committee Meeting (1994) (0)
- Summary and Future Directions for Epidemiological, Preventive and Basic Research (2000) (0)
- The American Medical Association Scientific Journals 1993 Theme Issues on Molecular Genetics and Medicine: Call for Papers (1993) (0)
- Book ReviewGenetics and the Law. (1976) (0)
- Crohn's disease and G-6-PD deficiency. (1968) (0)
- Table 2. [Selected OPN1MW and OPN1LW Allelic Variants]. (2015) (0)
- Index rerum ad Vol. 17 (1967) (0)
- New clinical implications of molecular genetics. (1979) (0)
- Figure 6. [Variation in the red and...]. (2015) (0)
- Figure 7. [Changes in gene number and...]. (2015) (0)
- Genetics and society. (1982) (0)
- Introductory Speech for Joan Marks (2004) (0)
- Figure 5. [Classes of color vision defects...]. (2015) (0)
- Formal Genetics of Humans: Linkage Analysis and Gene Clusters (1997) (0)
- List of contributors (1986) (0)
- Molecular genetics and medicine. A call for papers. (1993) (0)
- Letter to the Editor: Reply to Becker and Morgan (2002) (0)
- Figure 3. [The Ishihara test for the...]. (2015) (0)
- Practical Applications of Human Genetics and the Biological Future of Mankind (1986) (0)
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