Techniques In Diagnostic Human Biochemical Genetics
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Techniques In Diagnostic Human Biochemical Genetics
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Author : Frits A. Hommes
language : en
Publisher: Wiley-Liss
Release Date : 1991
Techniques In Diagnostic Human Biochemical Genetics written by Frits A. Hommes and has been published by Wiley-Liss this book supported file pdf, txt, epub, kindle and other format this book has been release on 1991 with Medical categories.
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.
Laboratory Guide To The Methods In Biochemical Genetics
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Author : Nenad Blau
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-05-31
Laboratory Guide To The Methods In Biochemical Genetics written by Nenad Blau and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-05-31 with Medical categories.
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.
Biochemical Genetics
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Author : Emmanuel Shapira
language : en
Publisher: Oxford University Press, USA
Release Date : 1989
Biochemical Genetics written by Emmanuel Shapira and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 1989 with Medical categories.
The most comprehensive laboratory manual of its kind, this book summarizes the common assays and laboratory procedures used for the diagnosis of genetic biochemical disorders. Written in cookbook fashion, it provides detailed descriptions of the procedures currently used in the diagnostic work-up of patients with underlying inherited inborn errors of metabolism. General procedures and buffer preparations are discussed. Fluorometric and spectrophotometric assays for lysosomal and non-lysosomal enzymes, radioisotope methods, and tests for metabolic disorders such as qualitative spot tests and thin-layer chromatography are included. For each assay, the authors list the tissues to which it has been applied, control ranges for leukocyte and fibroblast preparations, and commercial sources of substrates. Clear and concise, this guidebook is designed to be accessible even to those with limited experience, and will be an invaluable aid for genetics laboratories and medical geneticists.
Molecular Diagnostics
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Author : Wayne W. Grody
language : en
Publisher: Academic Press
Release Date : 2009-11-06
Molecular Diagnostics written by Wayne W. Grody and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-06 with Medical categories.
Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. Serves as the definitivereference for molecular pathologists worldwide Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science
Diagnostics And Gene Therapy For Human Genetic Disorders
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Author : K.V. Chaitanya
language : en
Publisher: CRC Press
Release Date : 2022-12-30
Diagnostics And Gene Therapy For Human Genetic Disorders written by K.V. Chaitanya and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-30 with Science categories.
Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.
Human Biochemical Genetics
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Author : H. Harris
language : en
Publisher: Cambridge University Press
Release Date : 1966-01-02
Human Biochemical Genetics written by H. Harris and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1966-01-02 with Medical categories.
This survey of human inherited metabolic abnormalities, originally published in 1959, was a worthy successor to A. E. Garrod's classic Inborn Errors of Metabolism. An enormous amount of knowledge on this subject had been accumulated in the intermittent period and Professor Harris presents an account that at the time was both precise and concise, as well as being highly readable. The study of human biochemical genetics in 1959 involved material that came from a number of disciplines, of which medicine, genetics, biochemistry, chemical pathology and anthropology were the chief. This book aimed to help direct the attention of investigators in each of these subjects to the results, and the implications of the results, obtained by those working in others. It also attempted to indicate the bearing and significance of these results on what was one of the most fundamental problems in biology, namely the mode of action of the hereditary units - the genes of classical genetics
Diagnostic Techniques In Genetics
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Author : Jean-Louis Serre
language : en
Publisher: John Wiley & Sons
Release Date : 2007-01-11
Diagnostic Techniques In Genetics written by Jean-Louis Serre and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-01-11 with Science categories.
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.
Assessing Genetic Risks
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
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.
Human Biochemical Genetics
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Author :
language : en
Publisher:
Release Date : 1973
Human Biochemical Genetics written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1973 with Biochemical genetics categories.
Molecular Genetic Pathology
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Author : Liang Cheng
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-01-01
Molecular Genetic Pathology written by Liang Cheng and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-01-01 with Medical categories.
This volume presents a useful and up-to-date handbook containing information relevant to the clinical practice of molecular genetic pathology. It features organized, detailed text on specific molecular genetic techniques. The volume provides a unique reference for the practicing pathologist and medical geneticist, as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology.