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Genetics And Neurology

Author: Sarah Bundey
Publisher: Elsevier
ISBN: 1483281019
Size: 41.19 MB
Format: PDF, Mobi
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Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.

Genetics For Surgeons

Author: Patrick John Morrison
Publisher: Remedica
ISBN: 1901346692
Size: 66.12 MB
Format: PDF, ePub
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Annotation Surgeons, medical geneticists, genetics counselors Review of leading medical and surgical journals shows that the most frequent area of publication is papers with a genetic or molecular biology component. Some of these papers will involve childhood or prenatal diagnostic issues, while an increasing proportion involve adult-onset single disorders such as neurological disease or familial cancers. In the future, complex multifactorial for polygenicl diseases such as cardiovascular and respiratory diseases will become more prevalent, and already the ethical issues involved are complex and widely discussed. Surgeons need to know about genetics and how it interacts with modern surgical practice. Inherited diseases contribute to a substantial proportion of the surgical workload. Recognition of a positive history of disease in a family will allow genetic testing and precise diagnosis, leading to the ability to presymptomatically screen at-risk members of a family and allow screening and prevention strategies to be implemented.

The Age Of Genomes

Author: Steven Monroe Lipkin
Publisher: Beacon Press
ISBN: 0807074586
Size: 43.72 MB
Format: PDF
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A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in history Almost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families. Steven Lipkin and Jon Luoma posit that today’s genomics is like the last century’s nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes! The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.

Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease

Author: Roger N. Rosenberg
Publisher: Elsevier
ISBN: 0124105491
Size: 32.57 MB
Format: PDF, ePub
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Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Elements Of Medical Genetics

Author: Alan E. H. Emery
ISBN: 9780443045240
Size: 71.14 MB
Format: PDF
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Updated and revised, with new illustrations, diagrams and clinical photographs. There is also new information on molecular biology and molecular genetics and it is in a larger format and colour has been added for the first time. It is a text for students in preclinical as well as clinical years.

Human Genetics

Author: Christian Patrick Schaaf
Publisher: Lippincott Williams & Wilkins
ISBN: 1608316718
Size: 72.42 MB
Format: PDF, Kindle
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This core genetics text supports medical students in their first or second year. Unique in its approach, Genetics teaches concepts by exploring disease entities within the context of the organ system in which they most frequently present. Coverage of the patient and family's point of view helps students understand and anticipate the major obstacles for those living with severe genetic conditions. Top 30 genetic conditions are profiled in a special section. Content has been carefully adapted from the successful German text for the English language audience.

Neuroimaging Genetics

Author: Kristin L. Bigos
Publisher: Oxford University Press
ISBN: 0190209771
Size: 46.47 MB
Format: PDF, Kindle
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The field of neuroimaging genetics has grown exponentially over the past decade. To date there are more than 10,000 published papers involving MRI, PET, MEG and genetics. Neuroimaging Genetics: Principles and Practices is the comprehensive volume edited by Drs. Bigos, Hariri, and Weinberger and co-authored by the preeminent scholars in the field. This text reviews the basic principles of neuroimaging techniques and their application to neuroimaging genetics. The work presented in this volume elaborates on the explosive interest from diverse research areas in psychiatry and neurology in the use of imaging genetics as a unique tool to establish and identify mechanisms of risk, establish biological significance, and extend statistical evidence of genetic associations. Examples throughout highlight the application of imaging genetics to understand neurochemical systems and pathways, explore relationships between genetics and the structural and functional connectivity in human brain, and provide insight into mechanisms of risk for psychiatric and neurologic illness.

A Short History Of Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195187504
Size: 63.79 MB
Format: PDF
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Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Thompson Thompson Genetics In Medicine E Book

Author: Robert L. Nussbaum
Publisher: Elsevier Health Sciences
ISBN: 1437700934
Size: 76.58 MB
Format: PDF, Mobi
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Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.

Genetic Steroid Disorders

Author: Maria I. New
Publisher: Academic Press
ISBN: 0123914671
Size: 10.77 MB
Format: PDF, ePub, Docs
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This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders Includes the very latest details on genetic tests and diagnoses Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting