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Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine...
In this volume, studies of bone growth and development illustrate new methods and insights that enhance the anthropological understanding of skeletal variation.
Human microbiome research has revealed that legions of bacteria, viruses, and fungi live on our skin and within the cavities of our bodies. New knowledge from these recent studies shows that humans are superorganisms and that the microbiome is indispensible to our lives and our health. This volume explores some of the science on the human microbiome and considers the ethical, legal, and social concerns that are raised by this research.
Mechanobiology: From Molecular Sensing to Disease will provide a review of the current state of understanding of mechanobiology and its role in health and disease. It covers: Current understanding of the main molecular pathways by which cells sense and respond to mechanical stimuli, A review of diseases that with known or purported mechanobiological underpinnings; The role of mechanobiology in tissue engineering and regenerative medicine; Experimental methods to capture mechanobiological phenomena; Computational models in mechanobiology. - Presents our current understanding of the main molecular pathways by which cells sense and respond to mechanical stimuli - Provides a review of diseases with known or purported mechanobiological underpinnings - Includes the role of mechanobiology in tissue engineering and regenerative medicine - Covers experimental methods to capture mechanobiological phenomena
Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
Encyclopedia of Bone Biology, Three Volume Set covers hot topics from within the rapidly expanding field of bone biology and skeletal research, enabling a complete understanding of both bone physiology and its relation to other organs and pathophysiology. This encyclopedia will serve as a vital resource for those involved in bone research, research in other fields that cross link with bone, such as metabolism and immunology, and physicians who treat bone diseases. Each article provides a comprehensive overview of the selected topic to inform a broad spectrum of readers from advanced undergraduate students to research professionals. Chapters also explore the latest advances and hot topics tha...
Majoradvances in the diagnosis and treatment of oral clefts have been made in the past 50 years, and recent genetics and epidemiological studies have led to new theories about the causes of cleft lip and palate. Addressing issues that are relevant to clinicians, researchers and family members, this book is a comprehensive, well-illustrated, and up-to-date account of the many facets of this common disorder. The authors describe the embryological and molecular mechanisms of cleft causation, present and illustrate the genetic and epidemiological methods used to identify risk factors for oral clefts, and describe treatments by the various professionals of the cleft team. A section is also devoted to the integration of research findings into public health practice, including ethical and financial considerations. The book draws together such diverse disciplines as craniofacial development, gene mapping, epidemiology, medicine, ethics, health economics, and health policy and management, and it will be an invaluable reference work.
Within the framework of clinical internal medicine, they will gain critical knowledge of the many powerful molecular biology-based developments now so rapidly enhancing our understanding of the pathophysiology of disease, improving the feasibility and accuracy of diagnostic testing, and opening novel therapeutic avenues, including gene therapy. Readers will also gain a fuller understanding of the role played by genetic defects in a host of diseases, among them peripheral neuropathies, Alzheimer's disease, arrhythmias, leukemias and lymphomas, cystic fibrosis, hepatitis, HIV, autoimmune disorders, polycystic kidney disease, schizophrenia, affective disorders, alcoholism, Huntington's disease, and many more.
Most symposia on chronic inflammatory bowel disease during the last few years have focused on new aspects of aetiology and pathophysiology. However, based on such new aspects, changes in diagnosis and treatment have been developed over the last few years and some others are currently under investigation. This book, the proceedings of Falk Symposium 97, `Clinical Challenges in Inflammatory Bowel Diseases - Diagnosis, Prognosis and Treatment', held in Lugano, Switzerland, 18-19 April 1997, summarizes these changes and new developments, discusses their value and defines further new approaches. The topics include primary diagnosis, definition of different patient groups, special problems of these patients in daily life and very new therapeutic principles. This volume opens new possibilities of diagnosis and treatment of inflammatory bowel disease to physicians and provides stimulation for further development.
Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented.* * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis.* Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing.* Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcripti...