Author: Frits A. Hommes
Publisher: Wiley-Liss
ISBN:
Category : Medical
Languages : en
Pages : 674
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Book Description
Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860
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Book Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353
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Book Description
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128
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Book Description
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Author: Gerald Litwack
Publisher: Academic Press
ISBN: 032391053X
Category : Science
Languages : en
Pages : 883
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Book Description
**Selected for Doody's Core Titles® 2024 in Biochemistry** Human Biochemistry, Second Edition provides a comprehensive, pragmatic introduction to biochemistry as it relates to human development and disease. Here, Gerald Litwack, award-wining researcher and longtime teacher, discusses the biochemical aspects of organ systems and tissue, cells, proteins, enzymes, insulins and sugars, lipids, nucleic acids, amino acids, polypeptides, steroids, and vitamins and nutrition, among other topics. Fully updated to address recent advances, the new edition features fresh discussions on hypothalamic releasing hormones, DNA editing with CRISPR, new functions of cellular prions, plant-based diet and nutrition, and much more. Grounded in problem-driven learning, this new edition features clinical case studies, applications, chapter summaries, and review-based questions that translate basic biochemistry into clinical practice, thus empowering active clinicians, students and researchers. - Presents an update on a past edition winner of the 2018 Most Promising New Textbook (College) Award (Texty) from the Textbook and Academic Authors Association and the PROSE Award of the Association of American Publishers - Provides a fully updated resource on current research in human and medical biochemistry - Includes clinical case studies, applications, chapter summaries and review-based questions - Adopts a practice-based approach, reflecting the needs of both researchers and clinically oriented readers
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309132975
Category : Medical
Languages : en
Pages : 287
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Book Description
It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.
Author: Dorian J. Pritchard
Publisher: John Wiley & Sons
ISBN: 0470656549
Category : Medical
Languages : en
Pages : 243
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Book Description
Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
Author: Gerhard Michal
Publisher: John Wiley & Sons
ISBN: 1118656881
Category : Science
Languages : en
Pages : 420
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Book Description
The pathways and networks underlying biological function Now in its second edition, Biochemical Pathways continues to garner praise from students, instructors, and researchers for its clear, full-color illustrations of the pathways and networks that determine biological function. Biochemical Pathways examines the biochemistry of bacteria, plants, and animals. It offers a quick overview of the metabolic sequences in biochemical pathways, the chemistry and enzymology of conversions, the regulation of turnover, the expression of genes, the immunological interactions, and the metabolic background of health disorders. A standard set of conventions is used in all illustrations, enabling readers to easily gather information and compare the key elements of different biochemical pathways. For both quick and in-depth understanding, the book uses a combination of: Illustrations integrating many different features of the reactions and their interrelationships Tables listing the important system components and their function Text supplementing and expanding on the illustrated facts In the second edition, the volume has been expanded by 50 percent. Text and figures have undergone a thorough revision and update, reflecting the tremendous progress in biochemical knowledge in recent years. A guide to the relevant biochemical databases facilitates access to the extensive documentation of scientific knowledge. Biochemical Pathways, Second Edition is recommended for all students and researchers in such fields as biochemistry, molecular biology, medicine, organic chemistry, and pharmacology. The book's illustrated pathways aids the reader in understanding the complex set of biochemical reactions that occur in biological systems. From the reviews: “... highly recommended for every scientist and student working in biochemistry.” –Umwelt & Gesundheit 4/2012 (review in German language)
Author: Jean-Louis Serre
Publisher: John Wiley & Sons
ISBN: 0470870265
Category : Science
Languages : en
Pages : 270
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Book Description
Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics. First published in French by Dunod in 2002, this book is an excellent reference for students taking courses in molecular biology, medicine and medical genetics. It is also a useful introduction for postgraduate students and researchers in the field who require a general overview of genetic diagnoses.
Author: Lynn B. Jorde
Publisher:
ISBN: 9780323035682
Category : Genetic disorders
Languages : en
Pages : 0
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Book Description
This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!
