عنوان

Genetic hearing loss /

شابک

0824743091

شابک

9780824743093

شماره

dltt

عنوان اصلي

Genetic hearing loss /

نام عام مواد

[Book]

نام نخستين پديدآور

edited by Patrick J. Willems

نام خاص و کميت اثر

xiv, 483 pages :

ساير جزييات

illustrations ;

ابعاد

24 cm

متن يادداشت

Includes bibliographical references and index

متن يادداشت

Part I. Hearing and Hearing Loss -- 1. Normal Development of the Ear in the Human and Mouse / Lina M. Mullen, Yan Li, and Allen F. Ryan -- 2. Audiometric Tests and Diagnostic Workup / Paul J. Govaerts -- 3. Classification and Epidemiology / Alessandro Martini and Patrizia Trevisi -- Part II. Syndromic Hearing Loss -- 4. Usher Syndrome / William J. Kimberling -- 5. Pendred Syndrome / Shannon P. Pryor [and others] -- 6. Waardenburg Syndrome / Andrew P. Read -- 7. Jervell and Lange-Nielsen Syndrome / Lisbeth Tranebjaerg -- 8. HDR Syndrome / Hilde Van Esch and Koenraad Devriendt -- 9. Branchio-oto-renal Syndrome / Shrawan Kumar -- 10. Treacher Collins Syndrome / Jill Dixon and Michael J. Dixon -- 11. MYH9 / Anil K. Lalwani and Anand N. Mhatre -- 12. Mitochondrial Hearing Loss / Nathan Fischel-Ghodsian -- Part III. Genes Responsible for Nonsyndromic Hearing Loss -- 13. Gene Localization and Isolation in Nonsyndromic Hearing Loss / Patrick J. Willems -- 14. Connexins / Paolo Gasparini -- 15. Myosin VI / Nadav Ahituv [and others] -- 16. K+ Channel Gene KCNQ4 / Paul Coucke and Patrick J. Willems -- 17. COL11A2 257 / Wyman T. McGuirt, Guy Van Camp, and Richard J.H. Smith -- 18. POU-Domain Transcription Factors / Ronna Hertzano and Karen B. Avraham -- 19. [alpha]-Tectorin / P. Kevin Legan [and others] -- 20. EYA4 / Sigrid Wayne [and others] -- 21. DFNA 5 / Lut Van Laer, Egbert H. Huizing, and Guy Van Camp -- 22. COCH / Nahid G. Robertson and Cynthia C. Morton -- 23. Diaphanous / Kelly N. Owens and Mary-Claire King -- 24. Claudin 14 / Tamar Ben-Yosef, Edward R. Wilcox, and Thomas B. Friedman -- 25. CDH23 / Julie M. Schultz [and others] -- 26. TMPRSS3 / Stylianos E. Antonarakis and Hamish S. Scott -- 27. Otosclerosis / Kris Van Den Bogaert, Richard J.H. Smith, and Guy Van Camp -- Part IV. Miscellaneous Factors -- 28. Mechanisms that Regulate Hair Cell Differentiation and Regeneration / Brigitte Malgrange [and others] -- 29. Genetic Testing : Possibilities and Attitudes / Tim Hutchin, Karen Thompson, and Robert Mueller

بدون عنوان

0

متن يادداشت

Describes the normal development of the ear; updates the classification and epidemiology of hearing loss; surveys the usage of audiometric tests and diagnostic medical examinations; illuminates the most important syndromes associated with hearing loss such as Usher, Pendred, and Waardenburg syndromes; discusses the maternal inheritance patterns of mitochondrial hearing loss; provides a roadmap to gene localization and isolation in nonsyndromic hearing loss, exploring connexins, tectorins, myosins, ion channels, and other disease genes; highlights otosclerosis, one of the most common types of hearing loss; considers mechanisms regulating hair cell differentiation and regeneration; and elucidates the future of genetic testing for hearing loss

موضوع مستند نشده

Deafness-- Genetic aspects

موضوع مستند نشده

Ear-- abnormalities

موضوع مستند نشده

Hearing Loss-- congenital

موضوع مستند نشده

Hearing Loss-- genetics

موضوع مستند نشده

Molecular Biology

شماره

ويراست

شماره رده

نشانه اثر

شماره رده

شماره رده

نشانه اثر

مستند نام اشخاص تاييد نشده

Willems, Patrick J.,1956-

تاريخ عمليات

20160712072734.0

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y