Genetic Hearing Loss
DOWNLOAD
Download Genetic Hearing Loss PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Genetic Hearing Loss book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Hereditary Hearing Loss And Its Syndromes
DOWNLOAD
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.
Genetic Hearing Impairment
DOWNLOAD
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.
Genes Hearing And Deafness
DOWNLOAD
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
DOWNLOAD
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.
Genetic Hearing Loss
DOWNLOAD
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
Genetics Of Deafness
DOWNLOAD
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.
Hereditary Hearing Loss And Its Syndromes
DOWNLOAD
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
Definitions Protocols And Guidelines In Genetic Hearing Impairment
DOWNLOAD
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.
A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes
DOWNLOAD
Author : Muhammad Noman
language : en
Publisher:
Release Date : 2020-11-04
A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes written by Muhammad Noman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-11-04 with categories.
Hearing impairment is an immensely diagnosed genetic cause, 5% of the total world population effects with different kind of congenital hearing loss (HL). In third-world countries or countries where consanguineous marriages are more common the frequency rate of genetic disorders are at its zenith. Approximately, the incidence of hearing afflictions is ostensibly 7-8:1000 individuals whereas it is estimated that about 466 million peoples suffer with significant HL, and of theses deaf cases 34 million are children's up to March, 2020. Several genes and colossal numbers of pathogenic variants cause hearing impairment, which aided in next-generation with recessive, dominant or X-linked inheritance traits. This review highlights on syndromic and non-syndromic HL (SHL and NSHL), and categorized as conductive, sensorineural and mixed HL, which having autosomal dominant and recessive, and X-linked or mitochondrial mode of inheritance. Many hundred genes involved in HL are reported, and their mutation spectrum becomes very wide. Mapping of pathogenic genes in consanguinity family is facilitated to understand the disease history. Review presents the bases of HL and also focused on various genetic factors that cause deafness like the basics of genetic inheritance, and classic and well-characterized inherited factors of it. It also overviews the application of linkage analysis, SNPs genotyping and whole exome sequencing methods, in mapping and identification of new locus, causative genes and their variants in families inherited with HL. Conclusively, this review supports researchers in understanding the location of chromosome, the causative genes and specific locus which causing deafness in humans.
Developments In Genetic Hearing Impairment
DOWNLOAD
Author : Dafydd Stephens
language : en
Publisher: John Wiley & Sons
Release Date : 2007-01-16
Developments In Genetic Hearing Impairment 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 2007-01-16 with Medical categories.
This book comprises the first volume of a series which reports the outcomes of the European Union Concerted Action Programme on Genetic Hearing Impairment. The aim is to bring together clinical geneticists and audiologists, as well as basic scientists and other clinicians with a general interest in this field, to standardise the audiological and terminological approaches and publish state of the art interdisciplinary studies.