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Seventy Years of Struggle and Achievement
The stories of women from Wales minority communities are seldomheard. This book comprises the life stories of 40 Black Asian Minority Ethnic women that were finalists/winners for the Ethnic Minority Welsh Women Achievement award (2011-2019).
Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
Focus on Medical Genetics and Down's Syndrome Research
Medical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down's syndrome.
Neurocutaneous Disorders
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Cell Biology and Pathology of Myelin
Proceedings of the Fourth International Altschul Symposium held at Saskatoon, Saskatchewan, Canada, June 27-29, 1996
Principles and Practice of Clinical Cardiovascular Genetics
Consisting of contributions from experts in all specialties of cardiovascular genetics and applied clinical cardiology, Principles and Practice of Clinical Cardiovascular Genetics serves as the comprehensive volume for any clinician or resident in cardiology and genetics. Each chapter provides a detailed and comprehensive account on the molecular genetics and clinical practice related to specific disorders or groups of disorders, including Marfan syndrome, thoracic and abdominal aortic aneurysms, hypertrophic, dilated and restrictive cardiomyopathies and Arrhythmogenic right ventricular cardiomyopathy, as well as many others. All sections comprehensively address cardiovasuclar genetic disord...
Silicon Quantum Integrated Circuits
Quantum size effects are becoming increasingly important in microelectronics, as the dimensions of the structures shrink laterally towards 100 nm and vertically towards 10 nm. Advanced device concepts will exploit these effects for integrated circuits with novel or improved properties. Keeping in mind the trend towards systems on chip, this book deals with silicon-based quantum devices and focuses on room-temperature operation. The basic physical principles, materials, technological aspects, and fundamental device operation are discussed in an interdisciplinary manner. It is shown that silicon-germanium (SiGe) heterostructure devices will play a key role in realizing silicon-based quantum electronics.
A Guide to Cancer Genetics in Clinical Practice
FIRST PRIZE Winner in the Oncology category of the 2010 BMA Medical Book Competition. Intensive research over the last fifteen years has yielded a vast expansion in our understanding of the role of inheritance and genetics in a variety of cancers. Several inherited conditions have been identified which result in a high risk of various cancers; some of these were previously recognized, but the genetic basis underlying them has now been elucidated. This knowledge is now entering the sphere of routine clinical care. Surgeons, gastroenterologists, gynaecologists, oncologists, endocrinologists and many others need an awareness of these disorders, an understanding of genetic testing and when it is...
The Molecular Genetics of Lung Cancer
Lung cancer is the leading cause of cancer mortality in Western countries. It also provides an archetypal example of how inherited predisposing genetic variants may interact with an environmental influence (smoking) to modulate individual cancer risk. The Molecular Genetics of Lung Cancer describes how the new techniques, methods and approaches of molecular genetics are being used to unravel the complexities of the mechanisms underlying lung tumorigenesis by analysis at the DNA, RNA and protein levels with potentially important implications for tumour classification, diagnosis, prognosis and treatment as well as providing new insights into how lung tumours arise and how they progress to malignancy.
Molecular Diagnosis of Genetic Diseases
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
