Genetics And Etiology Of Down Syndrome

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Down Syndrome: From Understanding the Neurobiology to Therapy

Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :

Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Genetics and Etiology of Down Syndrome

Author : Subrata Dey
Publisher : BoD – Books on Demand
ISBN 13 : 9533076313
Total Pages : 344 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Genetics and Etiology of Down Syndrome by : Subrata Dey

Download or read book Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental

The Molecular Biology of Down Syndrome

Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 9783211833773
Total Pages : 380 pages
Book Rating : 4.8/5 (337 download)

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Book Synopsis The Molecular Biology of Down Syndrome by : G. Lubec

Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.

OBSTETRICS

Author :
Publisher :
ISBN 13 : 9788131247051
Total Pages : 0 pages
Book Rating : 4.2/5 (47 download)

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Book Synopsis OBSTETRICS by :

Download or read book OBSTETRICS written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Facts about Down Syndrome

Author :
Publisher :
ISBN 13 :
Total Pages : 20 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Facts about Down Syndrome by :

Download or read book Facts about Down Syndrome written by and published by . This book was released on 1984 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genetics and Neurobiology of Down Syndrome

Author : Bani Bandana Ganguly
Publisher : Academic Press
ISBN 13 : 0323904572
Total Pages : 500 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Genetics and Neurobiology of Down Syndrome by : Bani Bandana Ganguly

Download or read book Genetics and Neurobiology of Down Syndrome written by Bani Bandana Ganguly and published by Academic Press. This book was released on 2022-08-21 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. Reviews genetic etiology and mechanisms of trisomy 21 Discusses prenatal screening and genetic counseling, including ethical aspects Explores link between Down Syndrome and susceptibility to Alzheimer’s and early brain aging Covers cognitive and neurological symptoms and other health consequences Identifies future therapeutic developments

Fasten Your Seatbelt

Author : Brian Skotko
Publisher : Special Needs Collection
ISBN 13 : 9781890627867
Total Pages : 0 pages
Book Rating : 4.6/5 (278 download)

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Book Synopsis Fasten Your Seatbelt by : Brian Skotko

Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Author : R.J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 634 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Down Syndrome

Author : F. Fay Evans-Martin
Publisher : Infobase Publishing
ISBN 13 : 143811950X
Total Pages : 145 pages
Book Rating : 4.4/5 (381 download)

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Book Synopsis Down Syndrome by : F. Fay Evans-Martin

Download or read book Down Syndrome written by F. Fay Evans-Martin and published by Infobase Publishing. This book was released on 2009 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes the symptoms, diagnosis, treatment, and genetic aspects of Down syndrome.

Advances in the Study of Genetic Disorders

Author : Kenji Ikehara
Publisher : BoD – Books on Demand
ISBN 13 : 9533073055
Total Pages : 488 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Advances in the Study of Genetic Disorders by : Kenji Ikehara

Download or read book Advances in the Study of Genetic Disorders written by Kenji Ikehara and published by BoD – Books on Demand. This book was released on 2011-11-21 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Trisomy 21

Author : André Frank Zimpel
Publisher : Vandenhoeck & Ruprecht
ISBN 13 : 3647701963
Total Pages : 213 pages
Book Rating : 4.6/5 (477 download)

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Book Synopsis Trisomy 21 by : André Frank Zimpel

Download or read book Trisomy 21 written by André Frank Zimpel and published by Vandenhoeck & Ruprecht. This book was released on 2016-07-11 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: For a long time, it was assumed that a genetic disposition such as trisomy 21 enables predictions to be made about overall personality development. But, who could have ever imagined that people with trisomy 21 (Down syndrome) would also be capable of earning a university degree? We studied 1,294 people with trisomy 21. The results showed that people with trisomy 21 benefit more from abstract learning than their neurotypical counterparts. Two-year-olds with the syndrome first learn to read and only then to speak and will understand algebra better than arithmetic. Ignorance of neurodiversity inevitably leads to learning difficulties when these people are forced to learn at the same pace as others. This applies to autism and trisomy 21 to the same extent. That is why this book advocates the recognition of trisomy 21 as a variant in the spectrum of human neurodiversity.

Downs

Author : David Wright
Publisher : Oxford University Press
ISBN 13 : 019956793X
Total Pages : 254 pages
Book Rating : 4.1/5 (995 download)

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Book Synopsis Downs by : David Wright

Download or read book Downs written by David Wright and published by Oxford University Press. This book was released on 2011-08-25 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Editorial Advisor, Helen Bynum is a freelancer historian and author. --Book Jacket.

Advances in Research on Down Syndrome

Author : Subrata Dey
Publisher : BoD – Books on Demand
ISBN 13 : 953513762X
Total Pages : 150 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Advances in Research on Down Syndrome by : Subrata Dey

Download or read book Advances in Research on Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2018-01-31 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on chromosome editing, neurogenomics and diseases associated with Down syndrome. Research workers, scientists, medical graduates and physicians will find this book as an excellent source for consultation and references. Key features of this book are chromosome engineering in Down syndrome, mental retardation and cognitive disability, prenatal diagnosis and diseases associated with Down syndrome. Although aimed primarily for research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be exciting to wider audience, especially parents, relatives and health care providers who work with infants and children with Down syndrome.

Berman's Pediatric Decision Making E-Book

Author : Lalit Bajaj
Publisher : Elsevier Health Sciences
ISBN 13 : 0323087027
Total Pages : 808 pages
Book Rating : 4.3/5 (23 download)

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Book Synopsis Berman's Pediatric Decision Making E-Book by : Lalit Bajaj

Download or read book Berman's Pediatric Decision Making E-Book written by Lalit Bajaj and published by Elsevier Health Sciences. This book was released on 2011-08-08 with total page 808 pages. Available in PDF, EPUB and Kindle. Book excerpt: Berman’s Pediatric Decision Making uses an algorithmic, structured approach to lead you to the right diagnosis and treatment every time. Drs. Lalit Baja, Simon Hambidge, Ann-Christine Nyquist, and Gwendolyn Kerby use evidence-based research and flow charts for each presenting complaint or specific disorder to provide quick access to the information you need for effective decision making. With updated drug tables and revised algorithms, this streamlined new edition makes it even easier for you to diagnose and manage common clinical problems from infancy through adolescence. Rapidly access guidance on diagnosis and management from algorithms for each clinical disorder. Treat the full range of diseases and disorders with comprehensive coverage of diagnosis, assessment of severity, and clinical management. Choose the best treatment for each case thanks to indications for surgical interventions as well as expensive diagnostic procedures Stay current on recent developments and make effective decisions for movement disorders, physical abuse in children, sexual abuse in children, eating disorders, ADHD, and other hot topics. Find answers quickly and easily with a new table of contents organized into two sections—Presenting Complaints and Specific Disorders—that reduces the need to flip between chapters. Tap into the diverse perspectives of expert authors from all over the country. Get only the information you need in the streamlined new edition with shorter, more user-friendly flow diagrams and fewer specialized chapters.

Down Syndrome

Author : William I. Cohen
Publisher : John Wiley & Sons
ISBN 13 : 0471461229
Total Pages : 493 pages
Book Rating : 4.4/5 (714 download)

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Book Synopsis Down Syndrome by : William I. Cohen

Download or read book Down Syndrome written by William I. Cohen and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 493 pages. Available in PDF, EPUB and Kindle. Book excerpt: Der Band bietet einen aktuellen Überblick über klinische, entwicklungsbezogene, psychosoziale, erziehungs- und berufsbezogene Fragen bei Patienten mit Down Syndrom. Er diskutiert auch die Konsequenzen des Human-Genom-Projektes und die Sequenzierung des Chromosom 21. Erörtert aktuellste Entwicklungen, u.a. zum Thema Sexualität, Einbeziehung, Übergang ins Erwachsenenalter und Rechtsprechung. Behandelt die aktuellsten Neuerungen der "Health Care Guidelines for Individuals with Down Syndrome". Enthält auch Material zu mitunter kontrovers diskutierten alternativen und unkonventionellen Therapieansätzen.