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Genomic Disorders. 2006, Lupski


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Автор: Lupski
Название:  Genomic Disorders. 2006
Перевод названия: Расстройства генома
ISBN: 9781588295590
Издательство: Springer
Классификация:

ISBN-10: 1588295591
Обложка/Формат: Hardback
Страницы: 448
Вес: 1.13 кг.
Дата издания: 15.04.2006
Язык: English
Иллюстрации: 111 black & white illustrations, 1 colour illustrations, biography
Размер: 25.65 x 18.03 x 3.05
Читательская аудитория: Professional & vocational
Подзаголовок: The genomic basis of disease
Ссылка на Издательство: Link
Рейтинг:
Поставляется из: Германии
Описание: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Дополнительное описание: Формат: 254x178
Илюстрации: 111
Круг читателей: Genome and clinical researchers working in the fields of genetics, medical genetics, human genetics, genetic counseling, mouse genetics, and cytogenetics
Ключевые слова:
Язык: eng




Genomic Disorders

Автор: Lupski
Название: Genomic Disorders
ISBN: 1617376426 ISBN-13(EAN): 9781617376429
Издательство: Springer
Рейтинг:
Цена: 26552.00 р.
Наличие на складе: Есть у поставщика Поставка под заказ.

Описание: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Genomic Imprinting

Автор: Jon F. Wilkins
Название: Genomic Imprinting
ISBN: 0387775757 ISBN-13(EAN): 9780387775753
Издательство: Springer
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Цена: 23508.00 р.
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Описание: The goal of this book is neither to provide a basic introduction to imprinting, nor to provide a comprehensive survey of the current state of the field. Genomic imprinting refers to a recently discovered phenomenon in which the expression pattern of an allele depends on whether that allele was inherited from the mother or the father.

Genomic and Precision Medicine

Автор: Ginsburg, Geoffrey S.
Название: Genomic and Precision Medicine
ISBN: 0128006854 ISBN-13(EAN): 9780128006856
Издательство: Elsevier Science
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Цена: 15319.00 р.
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Описание:

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care.

One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.

  • Presents a comprehensive volume for primary care providers
  • Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine
  • Includes a current overview on major opportunities for genomic and personalized medicine in practice
  • Highlights case studies that illustrate the practical use of genomics in the management in patients
Genomic Architecture of Schizophrenia Across Diverse Genetic Isolates

Автор: Bulayeva
Название: Genomic Architecture of Schizophrenia Across Diverse Genetic Isolates
ISBN: 3319319620 ISBN-13(EAN): 9783319319629
Издательство: Springer
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Цена: 21661.00 р.
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Описание: This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia. Dagestan is characterized by extreme cultural and linguistic differences in a small geographic area and contains 26 indigenous ethnic groups. According to archeological data these indigenous highland ethnics have been living in the same area for more than ten thousand years. Our long-term population-genetic study of Dagestan indigenous ethnic groups indicates their close relation to each other and suggests that they evolved from one common ancestral meta-population. Dagestan has an extremely high genetic diversity between ethnic populations and a low genetic diversity within them. Such genetic isolates are exceptional resources for the detection of susceptibility genes for complex diseases because of the reduction in genetic and clinical heterogeneity. The founder effect and gene drift in these primary isolates may have caused aggregation of specific haplotypes with limited numbers of pathogenic alleles and loci in some isolates relative to others. The book presents a study in four ethnically and demographically diverse genetic isolates with aggregation of schizophrenia that we ascertained within our Dagestan Genetic Heritage Research Project. The results obtained support the notion that mapping genes of any complex disease (e.g., schizophrenia) in demographically older genetic isolates may be more time and cost effective due to their high clinical and genetic homogeneity, in comparison with demographically younger isolates, especially with genetically heterogeneous outbred populations.

Genomic and Personalized Medicine

Автор: Geoffrey S. Ginsburg
Название: Genomic and Personalized Medicine
ISBN: 0128006811 ISBN-13(EAN): 9780128006818
Издательство: Elsevier Science
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Цена: 15157.00 р.
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Описание:

Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care.

The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care.


  • Provides a comprehensive volume on the translation and implementation of biology into health care provision
  • Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation
  • Includes an up-to-date overview on major 'translational events' in genomic and personalized medicine, along with lessons learned
Genomic Medicine

Автор: Kumar, Dhavendra; Eng, Charis
Название: Genomic Medicine
ISBN: 019989602X ISBN-13(EAN): 9780199896028
Издательство: Oxford Academ
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Цена: 45276.00 р.
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Описание: The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition ofGenomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.


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