Genetics Of Hearing Impairment
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Genetics Of Deafness
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Author : B. Vona
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2016-04-21
Genetics Of Deafness written by B. Vona and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-21 with Medical categories.
Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.
Genes Hearing And Deafness
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Author : Alessandro Martini
language : en
Publisher: CRC Press
Release Date : 2007-06-13
Genes Hearing And Deafness written by Alessandro Martini and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-06-13 with Medical categories.
The field of generic hearing impairment is one where rapid advances are taking place, and it can often be difficult for Audiologists to keep track of the broader picture. In this important new text the authors take a synoptic approach and summarize the causes and basis of hearing impairments, the impact on the individual and the therapies available
The Effects Of Genetic Hearing Impairment In The Family
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Author : Dafydd Stephens
language : en
Publisher: John Wiley & Sons
Release Date : 2006-10-02
The Effects Of Genetic Hearing Impairment In The Family written by Dafydd Stephens and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-10-02 with Medical categories.
There has been an explosion of studies in the field of genetic hearing impairment in the past decade, associated with major advances in our understanding of the mechanisms and conditions involved. However, a recent review has highlighted the very limited number of studies on the effects of such hearing impairment on the individuals and families of those concerned. In The Effects of Genetic Hearing Impairment in the Family, under the aegis of the European Union GENDEAF programme, the editors have taken the first steps to address this deficit in our knowledge and understanding of this topic. The book addresses the problem by secondary analyses of existing large scale population studies, by prospective investigation of individuals with a family history of hearing impairment and by specific studies on patients with otosclerosis and neurofibromatosis 2 and their families. In addition several chapters look at the specific impact of deaf culture, ethnicity and religion on reactions to deafness and the specific needs in genetic counselling. This book represents an important first step in this field and should be an invaluable resource for all professionals involved with people with hearing impairments.
Hereditary Hearing Loss And Its Syndromes
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Author : Helga V. Toriello
language : en
Publisher: Oxford University Press
Release Date : 2013-08-08
Hereditary Hearing Loss And Its Syndromes written by Helga V. Toriello and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-08-08 with Medical categories.
This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.
Genetics And Hearing Impairment
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Author : Dai Stephens
language : en
Publisher: John Wiley & Sons
Release Date : 1996
Genetics And Hearing Impairment written by Dai Stephens and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 1996 with Medical categories.
The aim of this book is to provide a description of what is currently known about the genetics of deafness for audiologists, otologists and general genetics. It includes a number of background chapters introducing relevant genetics for audiologists and otologists and relevant aspects of auditory intervention for geneticists. These cover the epidemiology of hearing loss and the current situation with regard to gene identification within the field. Chapters on the common syndromes, eg Ushers, Waardenburg, Pendred, Branchio-otorenal and Treacher Collins are followed by coverage of Dominant, Recessive and x-linked non-syndromal deafness, together with mitrochondial deafness. The final section includes chapters on the genetic, rehabilitative and surgical management of genetic disorders.
Genetics And Auditory Disorders
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Author : Bronya J.B. Keats
language : en
Publisher: Springer Science & Business Media
Release Date : 2006-04-18
Genetics And Auditory Disorders written by Bronya J.B. Keats and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-04-18 with Science categories.
Genetics is fundamental to hearing function, and an understanding of genetics enhances both auditory research and the clinical treatment of the hearing impaired. Approaches to the diagnosis and treatment of hearing impairment have developed from technological advances in genetic research. This volume covers gene expression, mutations, mapping and cloning, as well as mitochondrial and cellular genetics. Chapters are also included on the uses of mouse models, genetic epidemiology and genetic counseling specifically for hearing impairment. As a comprehensive review of the genetics of hearing, this book will interest hearing researchers, clinicians and genetic counselors.
Genetic Hearing Impairment
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Author : Cornelius Wilhelmus Radboud Jozef Cremers
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2002-01-01
Genetic Hearing Impairment written by Cornelius Wilhelmus Radboud Jozef Cremers and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-01-01 with Medical categories.
A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.
Genetics Of Hearing Impairment
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Author : Ignacio del
language : en
Publisher: Mdpi AG
Release Date : 2022-11-16
Genetics Of Hearing Impairment written by Ignacio del and has been published by Mdpi AG this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-11-16 with categories.
The inner ear is a complex machinery at the cellular and molecular levels. Many different genes and proteins play roles in the development and maintenance of its structure and function, through participating in diverse molecular networks. A defect in any of these components can result in the loss of hearing. Consequently, hearing impairment encompasses a wide variety of disorders that are clinically and genetically heterogeneous. Understanding their genetic causes and their pathophysiological mechanisms, and characterizing the resulting phenotypes, are essential for developing novel therapies that target the specific defects. The articles and reviews in this book are representative of the many research lines that are currently active in the field, including recent advances in the genes and mutations involved in hearing impairment, the mechanisms through which mutations result in different syndromic or non-syndromic disorders, and the description of the associated phenotypes in humans and in animal models.
Definitions Protocols And Guidelines In Genetic Hearing Impairment
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Author : Alessandro Martini
language : en
Publisher: John Wiley & Sons
Release Date : 2001-04-11
Definitions Protocols And Guidelines In Genetic Hearing Impairment written by Alessandro Martini and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-04-11 with Medical categories.
This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities. The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past. The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified. The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.
Genetic Hearing Loss
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Author : Patrick J. Willems
language : en
Publisher: CRC Press
Release Date : 2003-10-17
Genetic Hearing Loss written by Patrick J. Willems and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-10-17 with Medical categories.
Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss