Genetics And Hearing Loss

Author : B. Vona,T. Haaf
Publisher : Karger Medical and Scientific Publishers
Page : 146 pages
File Size : 52,7 Mb
Release : 2016-04-21
Category : Medical
ISBN : 9783318058567

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Genetics of Deafness by B. Vona,T. Haaf Pdf

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.

Author : Patrick J. Willems
Publisher : CRC Press
Page : 453 pages
File Size : 44,7 Mb
Release : 2003-10-17
Category : Medical
ISBN : 9780824756888

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Genetic Hearing Loss by Patrick J. Willems Pdf

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 branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

Author : Helga V. Toriello,Shelley D. Smith
Publisher : Oxford University Press
Page : 576 pages
File Size : 45,9 Mb
Release : 2013-06-20
Category : Medical
ISBN : 9780199313884

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Hereditary Hearing Loss and Its Syndromes by Helga V. Toriello,Shelley D. Smith Pdf

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Author : Helga V. Toriello,Shelley D. Smith
Publisher : Oxford University Press
Page : 749 pages
File Size : 50,5 Mb
Release : 2013-08-08
Category : Medical
ISBN : 9780199731961

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Hereditary Hearing Loss and Its Syndromes by Helga V. Toriello,Shelley D. Smith Pdf

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.

Author : Alessandro Martini,Dafydd Stephens,Andrew P. Read
Publisher : CRC Press
Page : 338 pages
File Size : 55,9 Mb
Release : 2007-06-13
Category : Medical
ISBN : 9780203089828

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Genes, Hearing, and Deafness by Alessandro Martini,Dafydd Stephens,Andrew P. Read Pdf

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

Author : Cornelius Wilhelmus Radboud Jozef Cremers,Richard Smith
Publisher : Karger Medical and Scientific Publishers
Page : 263 pages
File Size : 40,8 Mb
Release : 2002-01-01
Category : Medical
ISBN : 9783805574495

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Genetic Hearing Impairment by Cornelius Wilhelmus Radboud Jozef Cremers,Richard Smith Pdf

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.

Author : Patrick J. Willems
Publisher : CRC Press
Page : 508 pages
File Size : 50,7 Mb
Release : 2003-10-17
Category : Medical
ISBN : 020391306X

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Genetic Hearing Loss by Patrick J. Willems Pdf

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

Author : Dafydd Stephens,Lesley Jones
Publisher : John Wiley & Sons
Page : 376 pages
File Size : 45,8 Mb
Release : 2006-10-02
Category : Medical
ISBN : 9780470030011

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The Effects of Genetic Hearing Impairment in the Family by Dafydd Stephens,Lesley Jones Pdf

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.

Author : Alessandro Martini
Publisher : John Wiley & Sons
Page : 200 pages
File Size : 53,7 Mb
Release : 2001-04-11
Category : Medical
ISBN : UOM:39015049627253

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Definitions, Protocols and Guidelines in Genetic Hearing Impairment by Alessandro Martini Pdf

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.

Author : Robert J. Gorlin
Publisher : Oxford University Press, USA
Page : 514 pages
File Size : 43,8 Mb
Release : 1995
Category : Deafness
ISBN : 0195065522

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Hereditary Hearing Loss and Its Syndromes by Robert J. Gorlin Pdf

This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologist

Author : Bronya J.B. Keats,Richard R. Fay
Publisher : Springer Science & Business Media
Page : 324 pages
File Size : 49,7 Mb
Release : 2006-04-18
Category : Science
ISBN : 9780387218533

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Genetics and Auditory Disorders by Bronya J.B. Keats,Richard R. Fay Pdf

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.

Author : Dai Stephens
Publisher : John Wiley & Sons
Page : 372 pages
File Size : 45,6 Mb
Release : 1996
Category : Medical
ISBN : UOM:39015040980875

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Genetics and Hearing Impairment by Dai Stephens Pdf

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.

Author : George M. Strain
Publisher : CABI
Page : 158 pages
File Size : 40,8 Mb
Release : 2011-03-01
Category : Deaf cats
ISBN : 1845937864

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Deafness in Dogs and Cats by George M. Strain Pdf

Deafness in pets is a very common problem and is increasingly being presented to veterinarians, as owners and breeders become more aware and concerned about such issues. This book will provide complete coverage of the subject describing the anatomy and physiology of the auditory system, types of deafness, testing for deafness, methods of amelioration and management, behaviour of deaf animals, and other issues associated with living and dealing with deaf pets.

Author : Robert J. Ruben,Thomas R. Van de Water,Karen P. Steel,New York Academy of Sciences,Deafness Research Foundation (U.S.)
Publisher : Unknown
Page : 348 pages
File Size : 43,7 Mb
Release : 1991
Category : Medical
ISBN : UVA:X002045235

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Genetics of Hearing Impairment by Robert J. Ruben,Thomas R. Van de Water,Karen P. Steel,New York Academy of Sciences,Deafness Research Foundation (U.S.) Pdf

Author : Charles I. Berlin,Bronya J. B. Keats
Publisher : Singular
Page : 0 pages
File Size : 46,5 Mb
Release : 2000
Category : Deaf
ISBN : 0769301037

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Genetics and Hearing Loss by Charles I. Berlin,Bronya J. B. Keats Pdf

For clinical researchers in audiology and otolaryngology, this fifth book in the Kresge- Mirmelstein Award series features the proceedings of the 1998 symposium. The book includes contributions from leading researchers on genetic causes of hearing loss and includes a CD-ROM containing audio and video footage from a Balinese village with a large genetically deaf population that have adopted a sign language indigenous to their culture. The CD-ROM also features samples of American Sign Language and Cued Speech. In the tradition of Berlin's previous work this book presents stunning new and evocative information for both researchers and clinicians.