Genetic hearing impairment: its clinical presentations
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 deaf...
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Weitere Verfasser: | , |
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Format: | Elektronisch E-Book |
Sprache: | English |
Veröffentlicht: |
Basel
Karger
2002
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Schriftenreihe: | Advances in oto-rhino-laryngology
Vol. 61 |
Schlagworte: | |
Online-Zugang: | BFB01 BSB01 BTW01 EUV01 FAN01 FAW01 FFW01 FHI01 FHM01 FHN01 FHR01 FKE01 FNU01 FWS01 FWS02 GEM01 LCO01 SAB01 SAM01 SBG01 SBR01 SND01 TUM01 UBA01 UBG01 UBM01 UBR01 UBT01 UBW01 UER01 UPA01 Volltext |
Zusammenfassung: | 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 |
Beschreibung: | presenting the phenotype of genetic non-syndromic and the most frequent syndromic types of hearing impairment |
Beschreibung: | 1 Online-Ressource (XIV, 248 Seiten) Illustrationen, Diagramme |
ISBN: | 9783318008708 |
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author2 | Cremers, Cornelius W. R. J. 1945- Smith, Richard J. H. |
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genre | (DE-588)4143413-4 Aufsatzsammlung gnd-content |
genre_facet | Aufsatzsammlung |
id | DE-604.BV036069152 |
illustrated | Not Illustrated |
indexdate | 2024-08-01T11:41:30Z |
institution | BVB |
isbn | 9783318008708 |
language | English |
oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-018960457 |
oclc_num | 873637310 |
open_access_boolean | |
owner | DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-355 DE-BY-UBR DE-20 DE-1102 DE-1028 DE-573 DE-859 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-521 DE-522 DE-526 DE-12 DE-83 DE-M382 DE-70 DE-578 DE-11 DE-1046 |
owner_facet | DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-355 DE-BY-UBR DE-20 DE-1102 DE-1028 DE-573 DE-859 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-521 DE-522 DE-526 DE-12 DE-83 DE-M382 DE-70 DE-578 DE-11 DE-1046 |
physical | 1 Online-Ressource (XIV, 248 Seiten) Illustrationen, Diagramme |
psigel | ZDB-1-KEB |
publishDate | 2002 |
publishDateSearch | 2002 |
publishDateSort | 2002 |
publisher | Karger |
record_format | marc |
series | Advances in oto-rhino-laryngology |
series2 | Advances in oto-rhino-laryngology |
spellingShingle | Genetic hearing impairment its clinical presentations Advances in oto-rhino-laryngology Otorhinolaryngology Genetics Audiology Erbkrankheit (DE-588)4015106-2 gnd Hörschädigung (DE-588)4134997-0 gnd |
subject_GND | (DE-588)4015106-2 (DE-588)4134997-0 (DE-588)4143413-4 |
title | Genetic hearing impairment its clinical presentations |
title_auth | Genetic hearing impairment its clinical presentations |
title_exact_search | Genetic hearing impairment its clinical presentations |
title_full | Genetic hearing impairment its clinical presentations volume editors: Cor W.R.J. Cremers, Richard J.H. Smith |
title_fullStr | Genetic hearing impairment its clinical presentations volume editors: Cor W.R.J. Cremers, Richard J.H. Smith |
title_full_unstemmed | Genetic hearing impairment its clinical presentations volume editors: Cor W.R.J. Cremers, Richard J.H. Smith |
title_short | Genetic hearing impairment |
title_sort | genetic hearing impairment its clinical presentations |
title_sub | its clinical presentations |
topic | Otorhinolaryngology Genetics Audiology Erbkrankheit (DE-588)4015106-2 gnd Hörschädigung (DE-588)4134997-0 gnd |
topic_facet | Otorhinolaryngology Genetics Audiology Erbkrankheit Hörschädigung Aufsatzsammlung |
url | https://karger.com/books/book/2426 |
volume_link | (DE-604)BV037287951 |
work_keys_str_mv | AT cremerscorneliuswrj genetichearingimpairmentitsclinicalpresentations AT smithrichardjh genetichearingimpairmentitsclinicalpresentations |