A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes

Author : Muhammad Noman
Publisher :
ISBN 13 :
Total Pages : 98 pages
Book Rating : 4.76/5 ( download)

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Download or read book A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes written by Muhammad Noman and published by . This book was released on 2020-11-04 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Helga V. Toriello
Publisher : Oxford University Press
ISBN 13 : 0199313881
Total Pages : 576 pages
Book Rating : 4.84/5 ( download)

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Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Publisher : Oxford University Press
ISBN 13 : 0199731969
Total Pages : 749 pages
Book Rating : 4.61/5 ( download)

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Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-08-08 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Robert J. Gorlin
Publisher : Oxford University Press, USA
ISBN 13 : 9780195065527
Total Pages : 514 pages
Book Rating : 4.22/5 ( download)

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Download or read book Hereditary Hearing Loss and Its Syndromes written by Robert J. Gorlin and published by Oxford University Press, USA. This book was released on 1995 with total page 514 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Publisher : Springer Science & Business Media
ISBN 13 : 038721853X
Total Pages : 332 pages
Book Rating : 4.33/5 ( download)

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Download or read book Genetics and Auditory Disorders written by Bronya J.B. Keats and published by Springer Science & Business Media. This book was released on 2006-04-18 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Patrick J. Willems
Publisher : CRC Press
ISBN 13 : 0824756886
Total Pages : 453 pages
Book Rating : 4.88/5 ( download)

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Download or read book Genetic Hearing Loss written by Patrick J. Willems and published by CRC Press. This book was released on 2003-10-17 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : B. Vona
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318058564
Total Pages : 146 pages
Book Rating : 4.67/5 ( download)

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Download or read book Genetics of Deafness written by B. Vona and published by Karger Medical and Scientific Publishers. This book was released on 2016-04-21 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Charles I. Berlin
Publisher : Singular
ISBN 13 : 9780769301037
Total Pages : 0 pages
Book Rating : 4.37/5 ( download)

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Download or read book Genetics and Hearing Loss written by Charles I. Berlin and published by Singular. This book was released on 2000 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : George M. Strain
Publisher : CABI
ISBN 13 : 9781845937867
Total Pages : 158 pages
Book Rating : 4.64/5 ( download)

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Download or read book Deafness in Dogs and Cats written by George M. Strain and published by CABI. This book was released on 2011-03-01 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Publisher :
ISBN 13 :
Total Pages : 348 pages
Book Rating : 4.35/5 ( download)

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Download or read book Genetics of Hearing Impairment written by Robert J. Ruben and published by . This book was released on 1991 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: