Hereditary Hearing Loss and Its Syndromes

Inbunden, Engelska, 2013

Av Helga V. Toriello, Shelley D. Smith, Spectrum Health) Toriello, Helga V. (Director of Clinical Genetics, Director of Clinical Genetics, University of Nebraska Medical Center) Smith, Shelley D. (Professor and Director of Human Molecular Genetics, Professor and Director of Human Molecular Genetics, Munroe Meyer Institute

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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.

Produktinformation

Utgivningsdatum2013-08-08
Mått282 x 226 x 43 mm
Vikt2 313 g
FormatInbunden
SpråkEngelska
SerieOxford Monographs on Medical Genetics
Antal sidor756
Upplaga3
FörlagOUP USA
ISBN9780199731961

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Helga Toriello received her PhD in genetics from Michigan State University. She is the Clinical Genetics Director of Spectrum Health and a Professor in the Department of Pediatrics and Human Development at Michigan State University.Shelley Smith obtained her Ph.D. in Medical Genetics at Indiana University and is certified as a Ph.D. Medical Geneticist by the American Board of Medical Genetics. She is currently Professor and Chair of Developmental Neuroscience and Professor of Pediatrics at the University of Nebraska Medical Center. She has been active clinically and in research in the field of hereditary hearing loss for over 20 years.

Contributors ; 1. Genetic Hearing Loss: A Brief History ; 2. Epidemiology, Etiology, Genetic Mechanisms, and Genetic Counseling ; 3. Embryology of the Mammalian Ear ; 4. Gene/Environment Interactions in Acquired Hearing Loss ; 5. Syndrome Diagnosis and Investigation in the Hearing-impaired Patient ; 6. Genetic Diagnosis and Gene Discovery for Hearing Loss Using Massively Parallel Sequencing ; 7. Genetic Hearing Loss with No Associated Abnormities ; 8. Genetic Hearing Loss Associated with External Ear Abnormalities ; 9. Genetic Hearing Loss Associaed with Eye Disorders ; 10. Genetic Hearing Loss Associated with Musculoskeletal Disorders ; 11. Genetic Hearing Loss Associated with Renal Disorders ; 12. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders ; 13. Genetics Hearing Loss Associated with Cardiac Abnormalities ; 14. Genetic Hearing Loss Associated with Endocrine Disorders ; 15. Genetic Hearing Loss Associated with Metabolic Disorders ; 16. Genetic Hearing Loss Associated with Integumentary Disorders ; 17. Genetic Hearing Loss Associated with Oral and Dental Disorders ; 18. Genetic Hearing Loss Associated with Chromosome Disorders

"This book stands alone as a standard reference on hereditary hearing loss. It will be an essential tool for all otorhinolaryngologists, medical geneticists, and other health care workers serving those with hearing disorders and their families." --New England Journal of Medicine"This book is an invaluable source of information for otolaryngologists, clinical geneticists and all those who care for patients with deafness and congenital malformations. Like other volumes by the same authors, it is destined to become a 'classic'." --Annals of the Royal College of Physicians and Surgeons of Canada"This reference is the most comprehensive book on the subject of hereditary deafness since Konigsmark and Gorlin's text GENETIC AND METABOLIC DEAFNESS published in 1976. This sequel has been long awaited by professionals and students in the fields of genetics, otolaryngology, and speech and hearing...An excellent reference which will prove to be an invaluable resource." --Journal of Genetic Counseling