Practical Guide to Neurogenetics Book

Practical Guide to Neurogenetics


  • Author : Thomas T. Warner
  • Publisher : Saunders
  • Release Date : 2009
  • Genre: Medical
  • Pages : 330
  • ISBN 10 : 0750654104
  • Total Read : 86
  • File Size : 16,8 Mb

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Practical Guide to Neurogenetics Summary:

This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

Practical Guide to Neurogenetics E Book Book

Practical Guide to Neurogenetics E Book


  • Author : Thomas T. Warner
  • Publisher : Elsevier Health Sciences
  • Release Date : 2008-11-04
  • Genre: Medical
  • Pages : 343
  • ISBN 10 : 9780702038457
  • Total Read : 92
  • File Size : 9,7 Mb

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Practical Guide to Neurogenetics E Book Summary:

This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

Neurogenetics Book

Neurogenetics


  • Author : Anonim
  • Publisher : Elsevier
  • Release Date : 2018-01-08
  • Genre: Medical
  • Pages : 436
  • ISBN 10 : 9780444632357
  • Total Read : 68
  • File Size : 6,8 Mb

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Neurogenetics Summary:

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Neurogenetics Book

Neurogenetics


  • Author : Stefan-M. Pulst
  • Publisher : Contemporary Neurology
  • Release Date : 2000
  • Genre: Medical
  • Pages : 496
  • ISBN 10 : 019512975X
  • Total Read : 67
  • File Size : 9,6 Mb

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Neurogenetics Summary:

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Neurogenetics Book

Neurogenetics


  • Author : Nicholas Wood
  • Publisher : Cambridge University Press
  • Release Date : 2012-04-12
  • Genre: Medical
  • Pages : 251
  • ISBN 10 : 9780521543729
  • Total Read : 59
  • File Size : 19,7 Mb

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Neurogenetics Summary:

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Oxford Desk Reference  Clinical Genetics and Genomics Book

Oxford Desk Reference Clinical Genetics and Genomics


  • Author : Helen V. Firth
  • Publisher : Oxford University Press
  • Release Date : 2017-09-08
  • Genre: Medical
  • Pages : 824
  • ISBN 10 : 9780192519825
  • Total Read : 81
  • File Size : 16,5 Mb

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Oxford Desk Reference Clinical Genetics and Genomics Summary:

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

A Practical Guide to Human Cancer Genetics Book

A Practical Guide to Human Cancer Genetics


  • Author : Shirley V. Hodgson
  • Publisher : Springer Science & Business Media
  • Release Date : 2013-11-22
  • Genre: Medical
  • Pages : 420
  • ISBN 10 : 9781447123750
  • Total Read : 97
  • File Size : 10,8 Mb

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A Practical Guide to Human Cancer Genetics Summary:

This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

The Practical Guide to the Genetic Family History Book

The Practical Guide to the Genetic Family History


  • Author : Robin L. Bennett
  • Publisher : John Wiley & Sons
  • Release Date : 2011-09-20
  • Genre: Medical
  • Pages : 384
  • ISBN 10 : 9781118209813
  • Total Read : 89
  • File Size : 8,6 Mb

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The Practical Guide to the Genetic Family History Summary:

HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making