Neurogenetic Diagnoses

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Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine

Carole H. Browner,Mabel H. Preloran
Neurogenetic Diagnoses the Power of Hope and the Limits of Today s Medicine Book PDF

Author : Carole H. Browner,Mabel H. Preloran
Publisher : Routledge
Page : 152 pages
File Size : 49,8 Mb
Release : 2009-12-18
Category : Medical
ISBN : 9781135179083

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Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine by Carole H. Browner,Mabel H. Preloran Pdf

As world populations continue to age, the incidence of very common, ultimately fatal neurodegenerative diseases (some of medicine’s most puzzling illnesses) will increase exponentially. Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine explores the diverse impacts and intense meanings of genetic diagnoses for patients suffering from such diseases, and for their family caregivers and clinicians. Through richly-textured, often heart-wrenching longitudinal case studies, Neurogenetic Diagnoses... reveals how extremely difficult it can be for patients to obtain a definitive diagnosis for the cause of their symptoms, even with genetic testing; how, with or without definitive diagnoses, patients and family caregivers strive to come to terms with their situations; and how they are aided (or not) in these endeavors by their doctors. The analysis is framed by increasingly sharp social debate over the consequences of decoding the human genome -- and the impact of genetic technology on our lives.

Neurogenetic Developmental Disorders

Michèle M. M. Mazzocco,Judith L. Ross
Neurogenetic Developmental Disorders Book PDF

Author : Michèle M. M. Mazzocco,Judith L. Ross
Publisher : MIT Press
Page : 525 pages
File Size : 55,8 Mb
Release : 2007
Category : Child
ISBN : 9780262134804

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Neurogenetic Developmental Disorders by Michèle M. M. Mazzocco,Judith L. Ross Pdf

Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.

Neurogenetic Diagnoses

Carole H. Browner,Mabel H. Preloran
Neurogenetic Diagnoses Book PDF

Author : Carole H. Browner,Mabel H. Preloran
Publisher : Routledge
Page : 160 pages
File Size : 44,5 Mb
Release : 2009-12-18
Category : Social Science
ISBN : 9781135179076

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Neurogenetic Diagnoses by Carole H. Browner,Mabel H. Preloran Pdf

As world populations continue to age, the incidence of very common, ultimately fatal neurodegenerative diseases (some of medicine’s most puzzling illnesses) will increase exponentially. Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine explores the diverse impacts and intense meanings of genetic diagnoses for patients suffering from such diseases, and for their family caregivers and clinicians. Through richly-textured, often heart-wrenching longitudinal case studies, Neurogenetic Diagnoses... reveals how extremely difficult it can be for patients to obtain a definitive diagnosis for the cause of their symptoms, even with genetic testing; how, with or without definitive diagnoses, patients and family caregivers strive to come to terms with their situations; and how they are aided (or not) in these endeavors by their doctors. The analysis is framed by increasingly sharp social debate over the consequences of decoding the human genome -- and the impact of genetic technology on our lives.

Practical Guide to Neurogenetics E-Book

Thomas T. Warner,Simon R. Hammans
Practical Guide to Neurogenetics E Book Book PDF

Author : Thomas T. Warner,Simon R. Hammans
Publisher : Elsevier Health Sciences
Page : 343 pages
File Size : 55,8 Mb
Release : 2008-11-04
Category : Medical
ISBN : 9780702038457

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Practical Guide to Neurogenetics E-Book by Thomas T. Warner,Simon R. Hammans Pdf

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.

Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

Alisdair McNeill
Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping Book PDF

Author : Alisdair McNeill
Publisher : MDPI
Page : 96 pages
File Size : 46,5 Mb
Release : 2019-10-23
Category : Medical
ISBN : 9783039216109

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Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by Alisdair McNeill Pdf

The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

Neurogenetics for the Practitioner

Gregory M. Pastores
Neurogenetics for the Practitioner Book PDF

Author : Gregory M. Pastores
Publisher : Elsevier
Page : 512 pages
File Size : 41,6 Mb
Release : 2024-04-26
Category : Medical
ISBN : 9780323958592

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Neurogenetics for the Practitioner by Gregory M. Pastores Pdf

Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis Explores various therapeutic strategies based on genetic interventions Discusses when a neurologic problem may have an underlying genetic cause

Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

Alisdair McNeill
Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping Book PDF

Author : Alisdair McNeill
Publisher : Unknown
Page : 1 pages
File Size : 52,5 Mb
Release : 2019
Category : Electronic books
ISBN : 3039216112

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Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by Alisdair McNeill Pdf

The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient's perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

Neurogenetics

Kishore R. Kumar,Christine Klein,Carolyn M. Sue,Alexander M
Neurogenetics Book PDF

Author : Kishore R. Kumar,Christine Klein,Carolyn M. Sue,Alexander M
Publisher : What Do I Do Now
Page : 209 pages
File Size : 43,9 Mb
Release : 2014-09-29
Category : Medical
ISBN : 9780199383894

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Neurogenetics by Kishore R. Kumar,Christine Klein,Carolyn M. Sue,Alexander M Pdf

In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management"--Provided by publisher.

Genetic Counseling for Adult Neurogenetic Disease

Jill S. Goldman
Genetic Counseling for Adult Neurogenetic Disease Book PDF

Author : Jill S. Goldman
Publisher : Springer
Page : 325 pages
File Size : 41,9 Mb
Release : 2014-12-01
Category : Psychology
ISBN : 9781489974822

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Genetic Counseling for Adult Neurogenetic Disease by Jill S. Goldman Pdf

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

Neurogenetics

Nicholas T. Potter
Neurogenetics Book PDF

Author : Nicholas T. Potter
Publisher : Springer Science & Business Media
Page : 392 pages
File Size : 49,9 Mb
Release : 2008-02-02
Category : Medical
ISBN : 9781592593309

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Neurogenetics by Nicholas T. Potter Pdf

The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular BiologyTM series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.

Neurogenetics

Anonim
Neurogenetics Book PDF

Author : Anonim
Publisher : Elsevier
Page : 436 pages
File Size : 49,9 Mb
Release : 2018-01-08
Category : Medical
ISBN : 9780444632357

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Neurogenetics by Anonim Pdf

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

Early Development in Neurogenetic Disorders

Deborah J. Fidler
Early Development in Neurogenetic Disorders Book PDF

Author : Deborah J. Fidler
Publisher : Academic Press
Page : 339 pages
File Size : 53,5 Mb
Release : 2011-08-08
Category : Medical
ISBN : 9780123744784

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Early Development in Neurogenetic Disorders by Deborah J. Fidler Pdf

This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education. The comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research Innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area This volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles-the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention

Neurogenetics

David R. Lynch
Neurogenetics Book PDF

Author : David R. Lynch
Publisher : CRC Press
Page : 792 pages
File Size : 55,7 Mb
Release : 2005-11-01
Category : Medical
ISBN : 0824729420

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Neurogenetics by David R. Lynch Pdf

Standing at the forefront of neurogenetic medicine, this reference supplies the tools and information required by clinicians to become familiar with modern neurogenetic approaches and apply the data gleaned from these technologies to the diagnosis and treatment of neurogenetic disorders, as well as traditionally non-genetic conditions such as Parkinson's and Alzheimer's disease.

Neurogenetics

Nicholas Wood
Neurogenetics Book PDF

Author : Nicholas Wood
Publisher : Cambridge University Press
Page : 251 pages
File Size : 52,6 Mb
Release : 2012-04-12
Category : Medical
ISBN : 9781107376205

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Neurogenetics by Nicholas Wood Pdf

Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.

Textbook of Neurogenetics

Adriano Jiménez Escrig
Textbook of Neurogenetics Book PDF

Author : Adriano Jiménez Escrig
Publisher : Unknown
Page : 316 pages
File Size : 45,6 Mb
Release : 2007-09
Category : Medical
ISBN : 8479787929

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Textbook of Neurogenetics by Adriano Jiménez Escrig Pdf

This text constitutes a comprehensive sinopsis of our current knowledge of thegenetics on neurological diseases. The book presents the wiews from various disciplines who share a common interest on Neurogenetics. The first sever chapters review basic genetics, from historical aspectcs to molecular genetic tools, the internet resources, and the statistics and software used in research and clinical ground. The remaining fourteen chapters provide valuable information on causes, clinical aspects, genetic diagnosis, treatment strategies and management of the main hereditary neurological disorders. These chapters covers miscellaneous neurological diseases as well as those categorized into groups, review the genetics in each process and provide advice about the steps involved to enable the clinician to make clinical, genetic and differential diagnoses. Besides the practical nature of each chapter, the book aims help neurologists select the most appropriate test, and interpret the results within the context of the genetic evaluation of hereditary neurological disorders. CONTENTS: Principles of genetics. Molecular Biology Techniques in Investigation and Diagnosis. Transgenic animals in Neurology. Gene Therapy of Neurological Diseases. Overview of Computer Software for Genetics. Internet Genetic Resources. Primer of Statistical Genetics. Strategies for the Genetic Molecular Study of a Neurological Disease. Neurogenetics from a Clinical point of view. Hereditary Muscular Dystrophies. Genetics of Movement Disorders. Genetics of Dementia. Genetics of Cerebrovascular Diseases. Genetic Bases of Neurological Disorders. Etc.