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Monographs in human genetics最新文献

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Animal Models: The Watanabe Heritable Hyperlipidemic Rabbit 动物模型:渡边遗传性高脂血症兔
Monographs in human genetics Pub Date : 1989-07-01 DOI: 10.1159/000416892
B. J. Lenten
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引用次数: 3
Statistical Approaches to Identifying Major Locus Effects on Disease Susceptibility 确定主要基因座对疾病易感性影响的统计方法
Monographs in human genetics Pub Date : 1989-07-01 DOI: 10.1159/000416888
J. Maccluer
{"title":"Statistical Approaches to Identifying Major Locus Effects on Disease Susceptibility","authors":"J. Maccluer","doi":"10.1159/000416888","DOIUrl":"https://doi.org/10.1159/000416888","url":null,"abstract":"The aim of this presentation is to describe statistical methods that are currently available for detecting the contribution of single genes to traits determined by both genetic and environmental factors. These traits incluse common diseases such as coronary heart disease, and quantitative risk factors such as serum concentrations of lipoproteins and apolipoproteins","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"50-78"},"PeriodicalIF":0.0,"publicationDate":"1989-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416888","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Using DNA markers to predict genetic susceptibility to atherosclerosis 利用DNA标记预测动脉粥样硬化的遗传易感性
Monographs in human genetics Pub Date : 1989-07-01 DOI: 10.1159/000416891
P. Frossard, S. Vinogradov
{"title":"Using DNA markers to predict genetic susceptibility to atherosclerosis","authors":"P. Frossard, S. Vinogradov","doi":"10.1159/000416891","DOIUrl":"https://doi.org/10.1159/000416891","url":null,"abstract":"By seeking DNA markers, or restriction fragment length polymorphisms (RFLPs), associated with the presence of atherosclerosis in clinically relevant populations, investigators in the field of molecular genetics make use of the role played by various genetic components in the genesis of the disease to develop prognostic tests which identify those individuals who carry an underlying genetic predisposition to develop atherosclerotic cardiovascular disease","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"178 1","pages":"110-124"},"PeriodicalIF":0.0,"publicationDate":"1989-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416891","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Chromosomal Organization of Genes Involved in Plasma Lipoprotein Metabolism: Human and Mouse ‘Fat Maps’ 参与血浆脂蛋白代谢的基因的染色体组织:人和小鼠的“脂肪图”
Monographs in human genetics Pub Date : 1989-01-01 DOI: 10.1159/000416889
A. Lusis, R. Sparkes
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引用次数: 3
Genetic Aspects of Plasma Lipoprotein and Cholesterol Metabolism in Nonhuman Primate Models of Atherosclerosis 非人类灵长类动物动脉粥样硬化模型中血浆脂蛋白和胆固醇代谢的遗传方面
Monographs in human genetics Pub Date : 1989-01-01 DOI: 10.1159/000416894
K. Laber-Laird, L. Rudel
{"title":"Genetic Aspects of Plasma Lipoprotein and Cholesterol Metabolism in Nonhuman Primate Models of Atherosclerosis","authors":"K. Laber-Laird, L. Rudel","doi":"10.1159/000416894","DOIUrl":"https://doi.org/10.1159/000416894","url":null,"abstract":"For these reasons, monkeys are the most practical and valuable primate models for studying genetic and environmental influences on lipoprotein and cholesterol metabolism and atherosclerosis. The biggest drawbacks to the use of these primates as genetic models are: 1) the expense and complications of maintenance, and 2) the long gestation time and propensity to single births, factors which make genetic studies in monkeys infrequent and difficult","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"12 1","pages":"170-188"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000416894","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64845743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Benzpyrene metabolism in human diploid fibroblasts. 人二倍体成纤维细胞对苯芘的代谢。
Monographs in human genetics Pub Date : 1978-07-01 DOI: 10.1159/000401586
W. Wöhler, C. Bartram, C. Schürer, H. Rüdiger
{"title":"Benzpyrene metabolism in human diploid fibroblasts.","authors":"W. Wöhler, C. Bartram, C. Schürer, H. Rüdiger","doi":"10.1159/000401586","DOIUrl":"https://doi.org/10.1159/000401586","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"165-70"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401586","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity. 培养成纤维细胞嘌呤代谢的动力学方面。HGPRT缺乏和PRPP合成酶过度活跃导致嘌呤分泌过多的患者细胞的比较研究。
Monographs in human genetics Pub Date : 1978-07-01 DOI: 10.1159/000401574
E. Zoref, A. De vries, O. Sperling
{"title":"Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity.","authors":"E. Zoref, A. De vries, O. Sperling","doi":"10.1159/000401574","DOIUrl":"https://doi.org/10.1159/000401574","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"96-9"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401574","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma. 部分HGPRT缺乏症:治疗正常尿酸血症12年后顽固性嗜铬细胞瘤的发展。
Monographs in human genetics Pub Date : 1978-07-01 DOI: 10.1159/000401578
N. Zöllner, F. Goebel, W. Gröbner
{"title":"Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.","authors":"N. Zöllner, F. Goebel, W. Gröbner","doi":"10.1159/000401578","DOIUrl":"https://doi.org/10.1159/000401578","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"112-5"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401578","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism. 遗传性卟啉血症:卟啉原代谢的遗传缺陷的证明。
Monographs in human genetics Pub Date : 1978-07-01 DOI: 10.1007/978-3-642-67002-2_10
Y. Nordmann, B. Grandchamp
{"title":"Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.","authors":"Y. Nordmann, B. Grandchamp","doi":"10.1007/978-3-642-67002-2_10","DOIUrl":"https://doi.org/10.1007/978-3-642-67002-2_10","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"51 3","pages":"217-22"},"PeriodicalIF":0.0,"publicationDate":"1978-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51014230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism. 糖结合代谢异常患者尿液中低聚糖的分离与鉴定。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401555
M A Chester, G Lennartson, A Lundblad, J Lundsten, N E Nordén, S Sjöblad, S Svensson, P A Ockerman
{"title":"Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism.","authors":"M A Chester, G Lennartson, A Lundblad, J Lundsten, N E Nordén, S Sjöblad, S Svensson, P A Ockerman","doi":"10.1159/000401555","DOIUrl":"https://doi.org/10.1159/000401555","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"2-6"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401555","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11322867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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