Studies of Fragile Sites on Human Chromosome 16
Author | : Julie Nancarrow |
Publisher | : |
Total Pages | : 462 |
Release | : 1998 |
Genre | : |
ISBN | : |
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Author | : Julie Nancarrow |
Publisher | : |
Total Pages | : 462 |
Release | : 1998 |
Genre | : |
ISBN | : |
Author | : Grant R. Sutherland |
Publisher | : |
Total Pages | : 312 |
Release | : 1985 |
Genre | : Science |
ISBN | : |
Fragile sites--points where chromosomes are apt to break--came to prominence in the late 1970s and are now the subject of much clinical concern and laboratory investigation. They are known or suspected agents in the genesis of mental retardation, birth defects, and cancer. This book, the first to deal with fragile sites on human chromosomes, takes a broad interdisciplinary approach to the subject, incorporating findings from cytogenetics, medical and clinical genetics, population genetics, mental retardation, dysmorphology, and oncology. The book has three interrelated sections. The first, focusing on the laboratory, presents what is known about fragile sites, their cytogenetics, and the conditions of cell culture needed to demonstrate them. A clinical section follows, covering X-linked forms of mental retardation, the clinical features associated with the fragile X, and genetic counseling with fragile sites. The final section considers fragile sites as they relate to genetics, including the possible relationship of fragile sites to cancer and to constitutional chromosome abnormalities. This book contains much previously unpublished material and will be an important resource for geneticists and cytogeneticists, molecular and cancer biologists, oncologists, pediatricians, and other health professionals.
Author | : Manfred Schwab |
Publisher | : Springer Science & Business Media |
Total Pages | : 1017 |
Release | : 2001-10-15 |
Genre | : Medical |
ISBN | : 3540665277 |
This comprehensive encyclopedic reference provides rapid and focused information about topics of cancer research for the clinical and basic scientist, students and informed laymen. It will be readily accessible, both electronically and in print, such that it will be of value to both the scientific community and the public.
Author | : Orlando J. Miller |
Publisher | : Springer Science & Business Media |
Total Pages | : 508 |
Release | : 2011-06-28 |
Genre | : Medical |
ISBN | : 1461301394 |
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Author | : R.J. MKinlay Gardner |
Publisher | : OUP USA |
Total Pages | : 650 |
Release | : 2012 |
Genre | : Medical |
ISBN | : 0195375335 |
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.
Author | : Randi Jenssen Hagerman |
Publisher | : |
Total Pages | : 481 |
Release | : 1996 |
Genre | : Fragile X syndrome |
ISBN | : 9780801853883 |
This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Author | : R.J. McKinlay Gardner |
Publisher | : Oxford University Press |
Total Pages | : 729 |
Release | : 2018-02-06 |
Genre | : Medical |
ISBN | : 019932901X |
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Author | : Institute of Medicine |
Publisher | : National Academies Press |
Total Pages | : 353 |
Release | : 1994-01-01 |
Genre | : Medical |
ISBN | : 0309047986 |
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.
Author | : Simon Shorvon |
Publisher | : Cambridge University Press |
Total Pages | : 1013 |
Release | : 2019-05-02 |
Genre | : Medical |
ISBN | : 1108420753 |
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Author | : Kenneth W. Adolph |
Publisher | : CRC Press |
Total Pages | : 488 |
Release | : 1991-03-28 |
Genre | : Science |
ISBN | : 9780824784300 |
Contributors detail up-to-date guidelines for using molecular techniques, cytogenetic and linkage analysis, and cellular methods, emphasizing human cells and medically relevant research. They present results of recent applications of techniques and step-by-step protocols for cloning large DNA molecu