Informationen zum Autor Alessandro Martini is the author of Genetics and Hearing Impairment, published by Wiley. Dai Stephens is the author of Genetics and Hearing Impairment, published by Wiley. Klappentext 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. Zusammenfassung The aim of this text is to provide a description of what is currently known about the genetics of deafness for audiologists! otologists and general genetics. The chapters cover topics such as genetics! common syndromes! non-syndromal deafness and the managment of genetic disorders. Inhaltsverzeichnis Foreword. Preface. Contributors. Acknowledgements. Part I Background. Chapter 1 Basic mechanisms of hearing and hearing impairment, Karen P Steel and Alan Plamer. Chapter 2 Basic genetic mechanisms, Andrew P Read. Chapter 3 Methods of identifying hearing loss genes, Bruno Dallapiccola, Rita Mingarelli and Andrew P Read. Chapter 4 The use of gene libraries in the study of the molecular genetics of the auditory system, William J Kimberling and Kirk Beisel. Chapter 5 Mouse models for human hearing impairment, Steven DM Brown and Karen P Steel. Chapter 6 Gene linkage in genetic hearing loss: Where are we now? Cor WRJ Cremers. Chapter Par II Audiology Chapter 7 Epidemiology of genetic hearing impairment, Agnete Parving. Chapter 8 The audiological approach to genetic hearing impairment in children, Edoardo Arslan and Eva Orzan. Chapter 9 Audiometric patterns of genetic hearing loss, Alessandro Martini and Silvano Prosser. Chapter 10 The detection of carriers of genetic hearing loss, Dayfydd Stephens and Eva Orzan. Chapter 11 Blance function and hearing loss, Claes Moller. Chapter 12 The diagnostic approach to syndromal hearing loss, Elisa Calzolari and Alberto Sensi. Chapter 13 Auditory dysfunction in genetic disordersd of the skelton, Peter Beighton. Chapter 14 Usher syndrome, William J Kimberling and Richard JH Smith. Chapter 15 Pendred syndrome, William REardon and Richard C Trembath. Chapter 16 Waardenburg syndrome, Andrew P Read and Valerie E Newton. Chapter 17 Alport syndrome, Han G Brunner. Chapter 18 Neurofibromatosis type II, D Gareth R Evans. Chapter 19 Branchio-oto-renal syndrome, Richard JH Smith and William J Kimberling. Chapter 20 Treacher Collins syndrome, Michael J Dixon. Part IV Non-Syndromal Hearing Loss. Chapter 21 Automsomal recessive non-syndromal hearing loss, Chrinstine Petit. Chapter 22 Autosomal dominant non-syndromal hearing loss, Christine Petit. Chapter 23 Otosclerois, Frank Declau and Paul van de Hyning. Chapter 24 X-linked hearing loss, Han G Brunner. Chapter 25 The X-linked re...

Klappentext

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.

Inhalt

Foreword. Preface.

Contributors.

Acknowledgements.

Part I Background.

Chapter 1 Basic mechanisms of hearing and hearing impairment, Karen P Steel and Alan Plamer.

Chapter 2 Basic genetic mechanisms, Andrew P Read.

Chapter 3 Methods of identifying hearing loss genes, Bruno Dallapiccola, Rita Mingarelli and Andrew P Read.

Chapter 4 The use of gene libraries in the study of the molecular genetics of the auditory system, William J Kimberling and Kirk Beisel.

Chapter 5 Mouse models for human hearing impairment, Steven DM Brown and Karen P Steel.

Chapter 6 Gene linkage in genetic hearing loss: Where are we now? Cor WRJ Cremers.

Chapter Par II Audiology

Chapter 7 Epidemiology of genetic hearing impairment, Agnete Parving.

Chapter 8 The audiological approach to genetic hearing impairment in children, Edoardo Arslan and Eva Orzan.

Chapter 9 Audiometric patterns of genetic hearing loss, Alessandro Martini and Silvano Prosser.

Chapter 10 The detection of carriers of genetic hearing loss, Dayfydd Stephens and Eva Orzan.

Chapter 11 Blance function and hearing loss, Claes Moller.

Chapter 12 The diagnostic approach to syndromal hearing loss, Elisa Calzolari and Alberto Sensi.

Chapter 13 Auditory dysfunction in genetic disordersd of the skelton, Peter Beighton.

Chapter 14 Usher syndrome, William J Kimberling and Richard JH Smith.

Chapter 15 Pendred syndrome, William REardon and Richard C Trembath.

Chapter 16 Waardenburg syndrome, Andrew P Read and Valerie E Newton.

Chapter 17 Alport syndrome, Han G Brunner.

Chapter 18 Neurofibromatosis type II, D Gareth R Evans.

Chapter 19 Branchio-oto-renal syndrome, Richard JH Smith and William J Kimberling.

Chapter 20 Treacher Collins syndrome, Michael J Dixon.

Part IV Non-Syndromal Hearing Loss.

Chapter 21 Automsomal recessive non-syndromal hearing loss, Chrinstine Petit.

Chapter 22 Autosomal dominant non-syndromal hearing loss, Christine Petit.

Chapter 23 Otosclerois, Frank Declau and Paul van de Hyning.

Chapter 24 X-linked hearing loss, Han G Brunner.

Chapter 25 The X-linked recessive progressive mixed hearing loss syndrom with perilymphatic gusher during stapes surgery (DFN3), Cpr WRJ Cremers.

Chapter 26 Mitochondrially determined hearing impairment, Nathan Fischel-Ghodsian.

Part V Management.

Chapter 27 Genetic counselling for hearing impairment, Robert F Mueller.

Chapter 28 Surgical counselling for hearing impairment, Robert F Mueller.

Chapter 29 Surgery for congenital conductive and mixed hearing loss without atresia of the ear canal, Cor WRJ Cremers.

Chapter 30 Rehabilitation of genetic hearing loss, Susan Bellman.

Glossary.

Reference.

Index.