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Genetics Of Deafness


Genetics Of Deafness
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Genetics Of Deafness


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


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



Genetics And Hearing Impairment


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.



Genetic Hearing Loss


Genetic Hearing Loss
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Author : Patrick J. Willems
language : en
Publisher: CRC Press
Release Date : 2019-10-17

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 2019-10-17 with 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 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.



Hereditary Hearing Loss And Its Syndromes


Hereditary Hearing Loss And Its Syndromes
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Author : Robert J. Gorlin
language : en
Publisher: Oxford University Press, USA
Release Date : 1995

Hereditary Hearing Loss And Its Syndromes written by Robert J. Gorlin and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Deafness categories.


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



Genetics And Hearing Loss


Genetics And Hearing Loss
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Author : Charles I. Berlin
language : en
Publisher: Singular
Release Date : 2000

Genetics And Hearing Loss written by Charles I. Berlin and has been published by Singular this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Deaf categories.


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.



Hereditary Hearing Loss And Its Syndromes


Hereditary Hearing Loss And Its Syndromes
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Author : Helga V. Toriello
language : en
Publisher: Oxford University Press
Release Date : 2013-06-20

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 2013-06-20 with Medical categories.


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.



Genetics Of Hearing Impairment


Genetics Of Hearing Impairment
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Author : Robert J. Ruben
language : en
Publisher:
Release Date : 1991

Genetics Of Hearing Impairment written by Robert J. Ruben and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1991 with Medical categories.




Genetic Hearing Impairment


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.



Definitions Protocols And Guidelines In Genetic Hearing Impairment


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.