Neurogenetic Syndromes

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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 : 49,6 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.

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 : 40,6 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.

Neurogenetics

Anonim
Neurogenetics Book PDF

Author : Anonim
Publisher : Elsevier
Page : 436 pages
File Size : 48,8 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 : 53,7 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

Neurogenetic Syndromes

Bruce K. Shapiro,Pasquale J. Accardo
Neurogenetic Syndromes Book PDF

Author : Bruce K. Shapiro,Pasquale J. Accardo
Publisher : Brookes Publishing Company
Page : 0 pages
File Size : 53,7 Mb
Release : 2010
Category : Medical
ISBN : 159857017X

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Neurogenetic Syndromes by Bruce K. Shapiro,Pasquale J. Accardo Pdf

An essential pediatrics text that sheds new light on neurogenetic syndromes, behavioural and psychological phenotypes. Syndromes such as Down syndrome, Fragile X, Prader Willi, and Williams syndrome are among those that are closely examined.

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 : 55,6 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.

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 : 51,9 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

Amid intense debate over the consequences of decoding the human genome and the impact of such technology on our lives, these lucid, richly-textured, jargon-free case studies explore the diverse meanings and impacts of genetic diagnoses for patients enduring currently incurable, ultimately fatal neurodegenerative diseases -- and for their family caregivers and clinicians.

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 : 40,9 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

Stefan-M. Pulst
Neurogenetics Book PDF

Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
Page : 496 pages
File Size : 55,9 Mb
Release : 2000
Category : Medical
ISBN : 019512975X

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Neurogenetics by Stefan-M. Pulst Pdf

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.

Genetic Instabilities and Neurological Diseases

Robert D. Wells,Tetsuo Ashizawa
Genetic Instabilities and Neurological Diseases Book PDF

Author : Robert D. Wells,Tetsuo Ashizawa
Publisher : Elsevier
Page : 783 pages
File Size : 48,6 Mb
Release : 2011-10-13
Category : Science
ISBN : 9780080463773

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Genetic Instabilities and Neurological Diseases by Robert D. Wells,Tetsuo Ashizawa Pdf

Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases

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

Anonim
Neurogenetics Book PDF

Author : Anonim
Publisher : Elsevier
Page : 480 pages
File Size : 43,9 Mb
Release : 2018-01-09
Category : Medical
ISBN : 9780444640772

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Neurogenetics by Anonim Pdf

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that 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 expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Neurogenetics of Psychiatric Disorders

Akira Sawa,Melvin G. McInnis
Neurogenetics of Psychiatric Disorders Book PDF

Author : Akira Sawa,Melvin G. McInnis
Publisher : CRC Press
Page : 232 pages
File Size : 51,7 Mb
Release : 2007-05-11
Category : Medical
ISBN : 9781420019544

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Neurogenetics of Psychiatric Disorders by Akira Sawa,Melvin G. McInnis Pdf

Translating bench-based research into effective bedside practice, this source provides a clear understanding of the neurobiology and neurogenetics of psychiatric disorders, the genes responsible for specific psychiatric disorders, and the implications of genetic roots and underlying biology on the development of new diagnostic approaches and treatment therapies.

Neurogenetics for the Practitioner

Gregory M. Pastores
Neurogenetics for the Practitioner Book PDF

Author : Gregory M. Pastores
Publisher : Elsevier
Page : 512 pages
File Size : 42,6 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

The Genetics of Neurological Disorders

Michael Baraitser
The Genetics of Neurological Disorders Book PDF

Author : Michael Baraitser
Publisher : Unknown
Page : 464 pages
File Size : 48,8 Mb
Release : 1997
Category : Medical
ISBN : UOM:39015040145271

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The Genetics of Neurological Disorders by Michael Baraitser Pdf

The third edition of The Genetics of Neurological Disorders incorporates the most recent advances in genetics into this comprehensive reference. The classification of diseases within the text has been updated in line with the change in practice necessitated by the newest findings in the field. Each condition is covered in a way that helps the clinician reach a diagnosis before counseling. Carrier detection and prenatal diagnosis are also discussed. Invaluable for both the geneticist and the neurologist, this book provides up-to-date information about counseling recurrence risks across a wide range of conditions.