Автор: Harper Joyce C. Название: Preimplantation genetic diagnosis ISBN: 0521884713 ISBN-13(EAN): 9780521884716 Издательство: Cambridge Academ Рейтинг: Цена: 12862.00 р. 18374.00-30% Наличие на складе: Есть (1 шт.) Описание: Preimplantation genetic diagnosis (PGD) is a key technique in modern reproductive medicine. Originally developed to help couples who were at risk of transmitting single-gene genetic abnormalities to their children, the development of the FISH technique broadened chromosome analysis to include detection of more complex inherited abnormalities. The last decade has seen the development of aneuploidy screening (PGS) for infertile couples, using the same techniques as PGD but screening for as many chromosomes as possible. PGD has always been a controversial procedure and embryo manipulation and selection is still illegal in some countries. The second edition of this leading textbook describes all aspects of PGD, with chapters written by key international experts in the field. A must for anyone interested in learning more about PGD, it will be of interest to everyone working in the fields of IVF, genetic diagnosis, genetic counselling, and prenatal diagnosis - including clinicians, embryologists, nurses, and clinical scientists.
Название: Practical genetic counseling for the laboratory ISBN: 0190604921 ISBN-13(EAN): 9780190604929 Издательство: Oxford Academ Рейтинг: Цена: 11722.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: 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.
Автор: Traboulsi Elias I Название: Genetic Diseases of the Eye ISBN: 0195326148 ISBN-13(EAN): 9780195326147 Издательство: Oxford Academ Рейтинг: Цена: 48708.00 р. Наличие на складе: Поставка под заказ.
Описание: This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists. New to this edition: - Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so. - A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases. - A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book. - A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field. - A new section on cancer genetics and the eye - New chapters on ocular imaging and gene therapy for inherited eye diseases. Features This book is a market leader in the field. Competition is out- of-date Written by leading experts Extrem
Автор: MCKinlay Gardner, R.J.; Sutherland, Grant R; Shaffe Название: Chromosome Abnormalities and Genetic Counseling (Hardback) ISBN: 0195375335 ISBN-13(EAN): 9780195375336 Издательство: Oxford Academ Рейтинг: Цена: 8237.00 р. Наличие на складе: Поставка под заказ.
Описание: 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.
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