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DNA Polymorphisms as Disease Markers (Paperback, Softcover reprint of the original 1st ed. 1991): D.J. Galton, G Assmann DNA Polymorphisms as Disease Markers (Paperback, Softcover reprint of the original 1st ed. 1991)
D.J. Galton, G Assmann
R1,446 Discovery Miles 14 460 Ships in 10 - 15 working days

The purpose of this workshop was to assess the value of DNA polymorphisms for the prediction, diagnosis or elucidation of aetiology for common metabolic diseases such as diabetes, hyperlipidaemia and atherosclerosis. The advent of recombinant DNA techniques has produced an explosion in knowledge of restriction site polymorphisms and hypervariable sequences around candidate genes for such common metabolic diseases as atherosclerosis, hyperlipidaemia and diabetes mellitus. These diseases are the major causes of morbidity and mortality in Western societies today. Since 1983 it has become apparent that there is much more variation in the frequency and sites of these DNA polymorphisms in human populations than was initially appreciated and that the majority of these DNA polymorphisms are only linkage markers for the disease. Consequently it was considered timely for laboratories involved in the mapping of these DNA mutations to meet together to discuss the implications of their studies. The main issues are whether such DNA polymorphisms will lead to an identification of major aetiological loci and which are the best techniques to achieve this? What is the cause of the differences in frequencies of such polymorphisms amongst world populations? Are such studies best conducted in homogeneous populations or in pedigrees? Are haplotypes, though more laborious to construct, a better way to proceed than analysis of single site polymorphisms? What are the consensus polymorphic sites that relate to the common metabolic diseases of diabetes, atherosclerosis and the hyperlipidaemias? The real need now to discuss the theoretical background behind the

HDL Deficiency and Atherosclerosis (Paperback, Softcover reprint of the original 1st ed. 1995): G Assmann HDL Deficiency and Atherosclerosis (Paperback, Softcover reprint of the original 1st ed. 1995)
G Assmann
R1,412 Discovery Miles 14 120 Ships in 10 - 15 working days

The tandem pace of medical knowledge and prevention of ischaemic heart disease over the past 50 years is testimony to the effectiveness of a combination of massive scientific research, continuous transfer of the results to medical practice, community actions and population aware ness. The death rate from coronary heart disease in the United States rose 20% from 1950 to 1963, when a dramatic and steady downward inflection began, arriving today at a rate over 50% lower. Numerous factors have contributed to this success. By 1950 lipoproteins had just been discovered, but a decade later a great surge in research had focussed upon plasma cholesterol and lipoprotein concentrations as major predictors of risk. Today, a continuing expansion and sophistica tion of that research has removed all doubt about the significance of particular patterns. The pathway to ideal prophylaxis, however, particu larly for risks associated with inherited lipoprotein disorders, still awaits the untangling of great amounts of new information that continue to rise from application of molecular technology. This volume deals with many of the contemporary puzzles. One theme revolves about the high density lipoproteins. For twenty years the HDL have been considered a defence against the caprices of the LDL, now believed to be particularly villainous after oxidation."

Arteriosklerose - Neue Aspekte Aus Zellbiologie Und Molekulargenetik, Epidemiologie Und Klinik (German, Paperback, 1990 ed.): G... Arteriosklerose - Neue Aspekte Aus Zellbiologie Und Molekulargenetik, Epidemiologie Und Klinik (German, Paperback, 1990 ed.)
G Assmann, E. Betz
R2,175 Discovery Miles 21 750 Ships in 10 - 15 working days

G. Assmann Dervorliegende Band enthaltdie Vortrage und Poster, die bei der Jahrestagung der Deutschen Gesellschaft fur Arterioskleroseforschung am 27. und 28. 2. 1989 pra- sentiert wurden. Zweck der Gesellschaft ist die Foerderung wissenschaftlicher und praktischer Aufgaben des gesamten Gebietes der Arterioskleroseforschung ein- schliesslich der Fortbildung. Deshalb war das Thema der Tagung bewusst umfas- send gewahlt worden, um moeglichst vielen Wissenschaftlern Gelegenheit zum Erfahrungsaustausch zu geben. Daruber hinaus sollte dem einzelnen die Moeglich- keit geboten werden, uber sein Spezialgebiet hinaus eine Vielzahl von Forschungsansatzen der multifaktoriellen Erkrankung Arteriosklerose kennen- zulernen. Die Tagung fand im Heinrich-Fabri-Institut der Universitat Tubingen in Blaubeuren statt. Sie wurde mit Unterstutzung der Universitat und der in Blaubeuren ansassi- gen Firma Merckle GmbH durchgefuhrt. Dafur sprechen wir beiden Institutionen unseren Dank aus. 13 Neugeborenen-Screening auf familiare Hypercholesterinamie - ein Pilotprojekt im Rahmen der Hochrisikostrategie zur kardiovaskularen Pravention auf der Ebene eines Bundeslandes H. Hahman, T. Jungen, T. Hillig, D. Becker, H. E. Keller, L. Bette Institut fur Praventive Kardiologie und Klinisch-Chemisches Zentral- laboratorium der Medizinischen Universitatskliniken, Homburg Zusammenfassung Erstmalig auf der Ebene eines ganzen Bundeslandes wurde im Saarland ein Neu- geborenen-Screening auf familiare Hypercholesterinamie durchgefuhrt. Aus Nabelvenenblut wurden bei 10. 238 Lebendgeborenen Cholesterin, Triglyzeride, HOL-Cholesterin und LDL-Cholesterin bestimmt. Da bei autosomal dominantem Erbgang ein Elternteil erkrankt s. ein muss, wurde bei Cholesterinwerten oberhalb der 95. Perzentile eine Elternnachuntersuchung veranlasst. Dadurch wurde nach den vorlaufigen Ergebnissen die erwartete Inzidenz von einem Erkrankungsfall auf 500 Neugeborene erreicht.

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