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Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes...
Human Malformations and Related Anomalies
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, an...
Chromosome Abnormalities and Genetic Counseling
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Human Malformations and Related Anomalies
Fifty-two authorities have collaborated to produce Human Malformations, a new reference work on birth defects. The coverage is encyclopedic in scope, including all significant human anomalies. Written for physicians and surgeons who evaluate and treat infants and children with birth defects, this work will also serve as a useful resource to all students of human development. This work is divided into two volumes. Volume I contains 15 chapters dealing with the evaluation and understanding of birth defects. Contributors from embryology, experimental teratology, anthropology, genetics, and the medical specialties combine to give a broad perspective. The history of concepts about malformations i...
Genomics and Clinical Medicine
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Open Access and the Humanities
If you work in a university, you are almost certain to have heard the term 'open access' in the past couple of years. You may also have heard either that it is the utopian answer to all the problems of research dissemination or perhaps that it marks the beginning of an apocalyptic new era of 'pay-to-say' publishing. In this book, Martin Paul Eve sets out the histories, contexts and controversies for open access, specifically in the humanities. Broaching practical elements alongside economic histories, open licensing, monographs and funder policies, this book is a must-read for both those new to ideas about open-access scholarly communications and those with an already keen interest in the latest developments for the humanities. This title is also available as Open Access via Cambridge Books Online.
Genomic Medicine
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Genetic Skin Disorders
This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed...
The Genetic Basis of Common Diseases
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult diseases, and we now have a better understanding of the molecular processes involved in genetic susceptibility and diseases mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondylarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the omplexities of these diseases. Unique clinical applications of genetics to common diseases are covered in the additional new chapters on genetic counseling, pharmacogenetics, and the genetic consequences of modern therapeutics.
Inherited Metabolic Disease in Adults
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
