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Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand...
Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.
Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
By focusing on chromosomes, Heredity under the Microscope offers a new history of postwar human genetics. Today chromosomes are understood as macromolecular assemblies and are analyzed with a variety of molecular techniques. Yet for much of the twentieth century, researchers studied chromosomes by looking through a microscope. Unlike any other technique, chromosome analysis offered a direct glimpse of the complete human genome, opening up seemingly endless possibilities for observation and intervention. Critics, however, countered that visual evidence was not enough and pointed to the need to understand the molecular mechanisms. Telling this history in full for the first time, Soraya de Chad...
Although overshadowed by his contemporaries Adam Smith and David Hume, the Scottish philosopher Adam Ferguson strongly influenced eighteenth-century currents of political thought. A major reassessment of this neglected figure, Adam Ferguson in the Scottish Enlightenment: The Roman Past and Europe’s Future sheds new light on Ferguson as a serious critic, rather than an advocate, of the Enlightenment belief in liberal progress. Unlike the philosophes who looked upon Europe’s growing prosperity and saw confirmation of a utopian future, Ferguson saw something else: a reminder of Rome’s lesson that egalitarian democracy could become a self-undermining path to dictatorship. Ferguson viewed t...
How engineers and clinicians developed the ultrasound diagnostic scanner and how its use in obstetrics became controversial. To its proponents, the ultrasound scanner is a safe, reliable, and indispensable aid to diagnosis. Its detractors, on the other hand, argue that its development and use are driven by the technological enthusiasms of doctors and engineers (and the commercial interests of manufacturers) and not by concern to improve the clinical care of women. In some U.S. states, an ultrasound scan is now required by legislation before a woman can obtain an abortion, adding a new dimension to an already controversial practice. Imaging and Imagining the Fetus engages both the development...
This book critically explores the history of gender verification in international sport, to show how culture, politics, and science come together to produce "femaleness" and, consequently, the female body as we know it. Tracing gender verification policies and practices in sport since the 1930s till the present, the book shows how and why medical "sex tests" have been used to "verify" women athletes’ femaleness, in ways that both reflect and have shaped broader social and scientific ideas about femaleness in the process. Exploring how geopolitics, gender, class and race relations intertwined with scientific ideas about femaleness and womanhood to shape gender verification, the book shows h...
This book is a unique source of information on the present state of the exciting field of molecular cytogenetics and how it can be applied in research and diagnostics. The basic techniques of fluorescence in situ hybridization and primed in situ hybridization (PRINS) are outlined, the multiple approaches and probe sets that are now available for these techniques are described, and applications of them are presented in 36 chapters by authors from ten different countries around the world. The book not only provides the reader with basic and background knowledge on the topic, but also gives detailed protocols that show how molecular cytogenetics is currently performed by specialists in this fie...
Judith G. Hall is a 2011 Fellow of The Royal Society of Canada.This specially-designed, practical, easy-to-use handbook presents reference data for health professionals, especially clinical geneticists, evaluating children and adults with abnormal features or syndromes. Using a mixture of graphs, tables, and charts, it presents information clinicians requireto define 'normal' patterns of growth for various parts of the body, and provides the standards against which to compare possible congenital abnormalities. Numerous illustrations help to explain exactly how standardized measurements should be taken to ensure accurate and comparable documentation ofgrowth patterns.
Prions are an entirely new class of pathogens, and scientists are just beginning to understand them. Although they have plagued humans and animals for 3 centuries, only in the last 2 decades have researchers linked them to diseases like Mad Cow. This book tells the strange story of their discovery, and the medical controversies that swirl around them. The author, Philip Yam, is a well-respected and connected journalist who is now an editor at Scientific American.