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> (2004)
> Örebro universitet
> Cohn Edward S. >
Audiological findin...
Audiological findings in Usher syndrome types IIa and II (non-IIa).
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- Sadeghi, Mehdi (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för audiologi,Institute of Selected Clinical Sciences, Department of Audiology
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Cohn, Edward S (författare)
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Kelly, William J (författare)
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Kimberling, William J (författare)
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Tranebjoerg, Lisbeth (författare)
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- Möller, Claes, 1950 (författare)
- Örebro universitet,Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för audiologi,Institute of Selected Clinical Sciences, Department of Audiology,Hälsoakademin
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(creator_code:org_t)
- London : Taylor & Francis, 2004
- 2004
- Engelska.
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Ingår i: International journal of audiology. - London : Taylor & Francis. - 1499-2027 .- 1708-8186. ; 43:3, s. 136-43
- Relaterad länk:
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https://gup.ub.gu.se...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- The aim was to define the natural history of hearing loss in Usher syndrome type IIa compared to non-IIa. People with Usher syndrome type II show moderate-to-severe hearing loss, normal balance and retinitis pigmentosa. Several genes cause Usher syndrome type II. Our subjects formed two genetic groups: (1) subjects with Usher syndrome type IIa with a mutation and/or linkage to the Usher IIa gene; (2) subjects with the Usher II phenotype with no mutation and/or linkage to the Usher IIa gene. Four hundred and two audiograms of 80 Usher IIa subjects were compared with 435 audiograms of 87 non-IIa subjects. Serial audiograms with intervals of > or = 5 years were examined for progression in 109 individuals Those with Usher syndrome type IIa had significantly worse hearing thresholds than those with non-IIa Usher syndrome after the second decade. The hearing loss in Usher syndrome type IIa was found to be more progressive, and the progression started earlier than in non-IIa Usher syndrome. This suggests an auditory phenotype for Usher syndrome type IIa that is different from that of other types of Usher syndrome II. Thus, this is to our knowledge one of the first studies showing a genotype-phenotype auditory correlation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
Nyckelord
- Abnormalities
- Multiple
- classification
- genetics
- physiopathology
- Adolescent
- Adult
- Age Factors
- Aged
- Aged
- 80 and over
- Audiometry
- Pure-Tone
- Auditory Threshold
- Child
- Child
- Preschool
- Disease Progression
- Female
- Hearing Loss
- classification
- genetics
- physiopathology
- Humans
- Male
- Middle Aged
- Retinitis Pigmentosa
- genetics
- physiopathology
- Syndrome
- Tinnitus
- genetics
- physiopathology
- Vertigo
- genetics
- physiopathology
- Audiology
- MEDICINE
- Medicine
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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