Emery And Rimoin`S Principles And Practice Of Medical Genetics And Genomics, Pyeritz, Reed E.
Автор: Lynn B. Jorde, John C. Carey , Michael J. Bamshad Название: Medical Genetics, 6 ed. ISBN: 0323597378 ISBN-13(EAN): 9780323597371 Издательство: Elsevier Science Рейтинг: Цена: 58380.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
Discusses current topics
including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
Offers a completely updated discussion of genetic testing modalities and applications.
Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
Illustrates key concepts with disease examples to demonstrate relevance to medicine.
Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Автор: Eberhard Passarge Название: Color Atlas of Genetics, 5 еd. ISBN: 3132414409 ISBN-13(EAN): 9783132414402 Издательство: Thieme Verlagsgruppe Рейтинг: Цена: 71560.00 T Наличие на складе: Нет в наличии. Описание:
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.
In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases.
Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area.
New fully illustrated topics in the revised fifth edition of the atlas include:
An overview of disorders resulting from structural changes of the genome (genomic disorders)
Abnormal imprinting patterns
Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others)
The CRISPR-Cas system
Genetic features of the aging processes
Disorders due to rearrangements of chromatin in the cell nucleus, and others
With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
Автор: Peter D Turnpenny, Sian Ellard, Ruth Cleaver Название: Emery`s Elements of Medical Genetics and Genomics, 16e ISBN: 0702079669 ISBN-13(EAN): 9780702079665 Издательство: Elsevier Science Рейтинг: Цена: 48270.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.
Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.
Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics
Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.
Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.
Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Автор: Anthony J.F. Griffiths, John Doebley, Catherine Pe Название: An Introduction to Genetic Analysis ISBN: 1319114776 ISBN-13(EAN): 9781319114770 Издательство: Macmillan Learning Рейтинг: Цена: 101630.00 T Наличие на складе: Нет в наличии. Описание: The evolution of a classicThe new 12th edition of Introduction to Genetic Analysis takes this cornerstone textbook to the next level.
Автор: T. Brown Название: Genomes 4 ISBN: 0815345089 ISBN-13(EAN): 9780815345084 Издательство: Taylor&Francis Рейтинг: Цена: 64300.00 T Наличие на складе: Нет в наличии. Описание:
Genomes 4 has been completely revised and updated. It is a thoroughly modern textbook about genomes and how they are investigated. As with Genomes 3, techniques come first, then genome anatomies, followed by genome function, and finally genome evolution. The genomes of all types of organism are covered: viruses, bacteria, fungi, plants, and animals including humans and other hominids.
Genome sequencing and assembly methods have been thoroughly revised including a survey of four genome projects: human, Neanderthal, giant panda, and barley. Coverage of genome annotation emphasizes genome-wide RNA mapping, with CRISPR-Cas 9 and GWAS methods of determining gene function covered. The knowledge gained from these techniques forms the basis of the three chapters that describe the three main types of genomes: eukaryotic, prokaryotic (including eukaryotic organelles), and viral (including mobile genetic elements). Coverage of genome expression and replication is truly genomic, concentrating on the genome-wide implications of DNA packaging, epigenome modifications, DNA-binding proteins, non-coding RNAs, regulatory genome sequences, and protein-protein interactions. Also included are applications of transcriptome analysis, metabolomics, and systems biology. The final chapter is on genome evolution, focusing on the evolution of the epigenome, using genomics to study human evolution, and using population genomics to advance plant breeding. Established methods of molecular biology are included if they are still relevant today and there is always an explanation as to why the method is still important.
Each chapter has a set of short-answer questions, in-depth problems, and annotated further reading. There is also an extensive glossary. Genomes 4 is the ideal text for upper level courses focused on genomes and genomics.
Автор: Naumova Anna K & Taketo-Hosotani Teruko Название: Epigenetics In Human Reproduction And Development ISBN: 9813144262 ISBN-13(EAN): 9789813144262 Издательство: World Scientific Publishing Цена: 121440.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
Epigenetics is defined as heritable changes that do not affect the DNA sequence but influence gene expression. Epigenetic changes occur at the levels of DNA, histone, protein, and chromatin structures. Proper epigenetic modifications are essential for cell differentiation and function during development, while some epigenetic modifications are passed on from parents to offspring through gametes. Therefore, alterations of epigenetic states would have serious consequences for human development and health. This realization and the advent of new technologies have encouraged the advance of epigenetic studies in recent years. Nonetheless, many aspects of epigenetics, such as regulatory mechanisms and evolutional advantages, remain to be better understood.
Written by 26 scientists at the forefront of epigenetics research, this book discusses the different facets of epigenetics: from gametogenesis to child development, as well as from mechanistic studies in animal models to reviews of human clinical data.
Автор: Omanand Koul, Jean E. Boucher Название: Genetics and Genomics for Advanced Practice Nursing: Principles and Application ISBN: 0826131247 ISBN-13(EAN): 9780826131249 Издательство: Mare Nostrum (Eurospan) Рейтинг: Цена: 93330.00 T Наличие на складе: Невозможна поставка. Описание: This unique text and reference, the first such book written for graduate-level nursing courses, provides an in-depth foundation for using genetics and genomic concepts in advanced practice and clinical research. Encompassing state-of-the-art knowledge of the most salient issues in genetics and genomics, it teaches students how to apply understanding of the genome structure and the ethical, legal, and social issues associated with genomics to all aspects of clinical practice assessment, genetic counseling, patient care, and research.The text covers the principles of human and molecular genetics, including variations, patterns of inheritance, and multifactorial inheritance. It examines gene action and expression, cytogenetics, the Human Genome Project, genetics terminology, and basic principles of relevant laboratory methods. The evolving principles of epigenetics, nutrigenomics, and pharmacogenomics in patient care and research are also explored along with their ethical, legal, and social ramifications. Additionally, the text discusses the implications of personalized medicine and direct-to consumer testing in regard to patient care and practice. Inherited and acquired health conditions are used to illustrate the impact of genetics and genomics on nursing practice and on opportunities for research. The text includes numerous case studies and exercises to help understand chromosomal distribution abnormalities along with virtual lab exercises for karyotyping and DNA analysis.Key Features: Provides exercises to help understand chromosomal distribution abnormalities Includes virtual lab exercises for karyotyping and DNA analysis Presents cases to draw pedigrees, and pedigree analysis Offers perspectives and case studies regarding ethical, legal, and socioeconomic issues specifically geared to APNs Discusses implications of personalized medicine and direct-to-consumer testing
Автор: Thangadurai Devarajan, Sangeetha Jeyabalan Название: Genomics and Proteomics: Principles, Technologies, and Applications ISBN: 1771881143 ISBN-13(EAN): 9781771881142 Издательство: Taylor&Francis Рейтинг: Цена: 137810.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology--genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology, DNA array assembly, gene expression analysis, assessing changes in genomic DNA, structure-based functional genomics, protein networks, and so on.
Topics in the book include:
- Different gene products with a similar role in neuronal defense against oxidative
- Gene-gene and gene-environment interactions in genetic epidemiology
- Elucidation of proto-oncogene c-abl function with the use of mouse models and the disease model of chronic myeloid leukemia
- Next-generation sequencing, microbiome evaluation, molecular microbiology, and their impact on human health
- Proteomics and prostate cancer
- RNA interference therapeutics
- Molecular mechanisms of hepatitis C virus entry
- Molecular phylogenetics for elucidation of evolutionary processes from biological data
- The impact of transgenic crops on soil quality, microbial diversity, and plant-associated communities.
- Biotechnological and genomic approaches for abiotic stress tolerance in crop plants
The book will be valuable for biotechnology researchers and bioinformatics professionals and students in all fields of biotechnology and will serve to broaden their knowledge about these newer tools, techniques, innovations, and applications.
Название: Applying Pharmacogenomics in Therapeutics ISBN: 1466582677 ISBN-13(EAN): 9781466582675 Издательство: Taylor&Francis Рейтинг: Цена: 183750.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare--i.e., personalized medicine.
Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text:
Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care
Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services
Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases
Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics
Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.
Название: Cardiovascular genetics and genomics ISBN: 3319881795 ISBN-13(EAN): 9783319881799 Издательство: Springer Рейтинг: Цена: 186330.00 T Наличие на складе: Невозможна поставка. Описание: This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Автор: Kumar, Dhavendra; Eng, Charis Название: Genomic Medicine ISBN: 019989602X ISBN-13(EAN): 9780199896028 Издательство: Oxford Academ Рейтинг: Цена: 301840.00 T Наличие на складе: Есть у поставщика Поставка под заказ. 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.
Автор: Ian Moore Название: Principles of Proteomics ISBN: 1680945335 ISBN-13(EAN): 9781680945331 Издательство: Mare Nostrum (Eurospan) Рейтинг: Цена: 121220.00 T Наличие на складе: Нет в наличии. Описание: Proteomics is the large-scale study of proteomes. A proteome is a set of proteins produced in an organism, system, or biological context. The proteome is not constant; it differs from cell to cell and changes over time. This text is intended to give the molecular biologist a rudimentary understanding of the technologies behind proteomics and their application to address biological questions.
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