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Med-books.by - Библиотека медицинской литературы » Генетика

Essentials Of Medical Genetics For Health Professionals - Gunder L.M., Martin S.A. - 2011 год



Essentials Of Medical Genetics For Health Professionals - Gunder L.M., Martin S.A. - 2011 год

Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge.
This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource.

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Molecular Genetics of Dysregulated pH Homeostasis - Chi J.-T. - 2014 год



Molecular Genetics of Dysregulated pH Homeostasis - Chi J.-T. - 2014 год

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

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Genetics of Cardiovascular Disease - Chico T.J. - 2014 год



Genetics of Cardiovascular Disease - Chico T.J. - 2014 год

This volume of the esteemed Progress in Molecular Biology and Translational Science series focuses on cutting-edge research related to the genetics of cardiovascular disease. Written by top experts in the field, this volume covers a range of topics, including:
Genetic models of atherosclerosis
MicroRNAs in cardiovascular disease
The role of the transcription factor KLF2 in vascular development and disease
Zebrafish as models of cardiovascular disease and hematopoietic development
Progress in Molecular Biology and Translational Science provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology. It contains contributions from leaders in their fields and abundant references.
The authors are all experts in the field
The reviews are in themselves comprehensive
Each topic has the potential to lead to advances in therapy of cardiovascular disease

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Molecular Pathology: The Molecular Basis of Human Disease - Coleman William., Tsongalis Gregory - 2009 год



Molecular Pathology: The Molecular Basis of Human Disease - Coleman William., Tsongalis Gregory - 2009 год

Molecular Pathology: The Molecular Basis of Human Disease provides a current and comprehensive view of the molecular basis and mechanisms of human disease. Combining accepted principles with broader theoretical concepts and with contributions from a group of experts, the book looks into disease processes in the context of traditional pathology and their implications for translational molecular medicine. It also discusses concepts in molecular biology and genetics, recent scientific and technological advances in modern pathology, the concept of ""molecular pathogenesis"" of disease, and how disease evolves from normal cells and tissues due to perturbations in molecular pathways.
The book describes the integration of molecular and cellular pathogenesis using a bioinformatics approach and a systems biology approach to disease pathogenesis. It also discusses current and future strategies in molecular diagnosis of human disease, and the impact of molecular diagnosis on treatment decisions and the practice of personalized medicine.
This book is a valuable resource for students, biomedical researchers, practicing physician-scientists who undertake disease-related basic science and translational research, and pathology residents and other postdoctoral fellows.

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High-Yield Genetics - Dudek R. H - 2009 год



High-Yield Genetics - Dudek R. H - 2009 год

Chromosomal DNA
Chromosome Replication
Meiosis and Genetic Recombination
The Human Mitochondrial Genome
Control of Gene Expression
Mutations of the DNA Sequence
Proto-Oncogenes, Oncogenes, and Tumor-Suppressor Genes
The Cell Cycle
Molecular Biology of Cancer
Cell Biology of the Immune System
Molecular Biology of the Immune System
Molecular Biology Techniques
Identification of Human Disease Genes
Gene Therapy

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Molecular Diagnosis of Genetic Diseses - Eles R., Mountford R. - 2010 год



Molecular Diagnosis of Genetic Diseses - Eles R., Mountford R. - 2010 год

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.

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Behavior Genetics of Cognition Across the Lifespan - Finkel D., Reynolds C.A. - 2014 год



Behavior Genetics of Cognition Across the Lifespan - Finkel D., Reynolds C.A. - 2014 год

Along with psychopathology, cognition has been one of the primary phenotypic focal points of the field of behavior genetics since its inception. Francis Galton’s 1874 examination of eminent families in Britain was among the earliest attempts to investigate whether cognitive achievements run in families. This volume presents current methodologies for understanding cognitive abilities that move beyond the outdated nature vs. nurture paradigm. Recent advances in both collection and statistical modeling of twin data, particularly longitudinal twin data, make this an especially advantageous moment to produce a work that presents a collection of the groundbreaking research on cognitive abilities across the lifespan. This volume presents an overview of the current state of quantitative and molecular genetic investigations into the many facets of cognitive performance and functioning across the lifespan.​

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Genetic Neuromuscular Disorders: A Case-Based Approach - Angelini C. - 2018 год



Genetic Neuromuscular Disorders: A Case-Based Approach - Angelini C. - 2018 год

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.
This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients.

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The AGT Cytogenetics Laboratory Manual - Arsham Marilyn S., Barch Margaret J., Lawce Helen J. - 2017 год



The AGT Cytogenetics Laboratory Manual - Arsham Marilyn S., Barch Margaret J., Lawce Helen J. - 2017 год

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics.
Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation.
The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.

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The Neurobiology and Genetics of Nicotine and Tobacco - Balfour D.J.K, Munafò M.R. - 2015 год



The Neurobiology and Genetics of Nicotine and Tobacco - Balfour D.J.K, Munafò M.R. - 2015 год

The primary purpose of this book and its companion volume The Neuropharmacology of Nicotine Dependence is to explore the ways in which recent studies on nicotine and its role in tobacco addiction have opened our eyes to the psychopharmacological properties of this unique and fascinating drug. While the present volume considers the molecular and genetic factors which influence behavioral responses to nicotine and how these may impact on the role of nicotine in tobacco dependence, the book The Neuropharmacology of Nicotine Dependence focuses on the complex neural and psychological mechanisms that mediate nicotine dependence in experimental animal models and their relationship to tobacco addiction in humans.
These volumes will provide readers with a contemporary overview of current research on nicotine psychopharmacology and its role in tobacco dependence from leaders in this field of research and will hopefully prove valuable to those who are developing their own research programmes in this important topic.

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