eBook PDF Download Digital Library
Author: Nenad Blau
Publisher: Springer Science & Business Media
Published: 2008-05-31
Total Pages: 860
ISBN-13: 3540766987
DOWNLOAD EBOOK →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: Georg F. Hoffmann
Publisher: Springer Science & Business Media
Published: 2009-11-21
Total Pages: 380
ISBN-13: 3540747230
DOWNLOAD EBOOK →The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Author: Nenad Blau
Publisher: Springer Science & Business Media
Published: 2003
Total Pages: 770
ISBN-13: 9783540425427
DOWNLOAD EBOOK →Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Author: Gregore Koliantz
Publisher:
Published: 2009
Total Pages: 0
ISBN-13: 9780891185611
DOWNLOAD EBOOK →Cell Division(Mitosis): Looking at Chromosomes -- Restriction Testing -- Extraction of Genomic DNA -- Polymerase Chain Reaction -- Cloning 1 Generating Recombinant Plasmids -- Cloning 2 Minipreping -- Southern Blotting 1 DNA Transfer -- Southern Blotting 2 DNA-DNA Hybridization and Sequence Detection -- Regulation of Gene Expression -- Physical Properties of DNA and DNA Assay -- Transmission Genetics (Heredity) -- Meiosis and Analysis of Crossing Over -- Complementation Test -- Molecular Markers: Mapping the Genome of Arabidopsis -- Population Genetics How Changes Occur within a Population -- Front Matter.
Author: Sue Carson
Publisher: Academic Press
Published: 2019-03-05
Total Pages: 294
ISBN-13: 0128157755
DOWNLOAD EBOOK →Molecular Biology Techniques: A Classroom Laboratory Manual, Fourth Edition is a must-have collection of methods and procedures on how to create a single, continuous, comprehensive project that teaches students basic molecular techniques. It is an indispensable tool for introducing advanced undergraduates and beginning graduate students to the techniques of recombinant DNA technology—or gene cloning and expression. The techniques used in basic research and biotechnology laboratories are covered in detail. Students will gain hands-on experience on subcloning a gene into an expression vector straight through to the purification of the recombinant protein. Presents student-tested labs proven successful in real classroom laboratories Includes a test bank on a companion website for additional testing and practice Provides exercises that simulate a cloning project that would be performed in a real research lab Includes a prep-list appendix that contains necessary recipes and catalog numbers, providing staff with detailed instructions
Author: Melody S. Clark
Publisher: Springer Science & Business Media
Published: 2013-11-27
Total Pages: 551
ISBN-13: 3642878733
DOWNLOAD EBOOK →Covering the whole range of molecular biology techniques - genetic engineering as well as cytogenetics of plants -, each chapter begins with an introduction to the basic approach. followed by detailed methods with easy-to-follow protocols and comprehensive troubleshooting. The first part introduces basic molecular methodology such as DNA extraction, blotting, production of libraries and RNA cloning, while the second part describes analytical approaches, in particular RAPD and RFLP. The manual concludes with a variety of gene transfer techniques and both molecular and cytological analysis. As such, this will be of great use to both the first-timer and the experienced scientist.
Author: McKinsey L. Goodenberger
Publisher: Oxford University Press
Published: 2017-02-28
Total Pages: 304
ISBN-13: 0190604948
DOWNLOAD EBOOK →An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.
Author: Ulf Kristoffersson
Publisher: Springer Science & Business Media
Published: 2010-06-25
Total Pages: 393
ISBN-13: 9048139198
DOWNLOAD EBOOK →Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
Author: David C. Amberg
Publisher: CSHL Press
Published: 2005
Total Pages: 250
ISBN-13: 0879697288
DOWNLOAD EBOOK →"Methods in Yeast Genetics" is a course that has been offered annually at Cold Spring Harbor for the last 30 years. This provides a set of teaching experiments along with the protocols and recipes for the standard techniques and reagents used in the study of yeast biology.
Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
Published: 2017-03-03
Total Pages: 1218
ISBN-13: 1119061172
DOWNLOAD EBOOK →Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
