Portal de investigación
Development of a genotyping microarray for Usher syndrome.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Cremers FP
- Kimberling WJ
- Külm M
- de Brouwer AP
- van Wijk E
- te Brinke H
- Cremers CW
- Hoefsloot LH
- Banfi S
- Simonelli F
- Fleischhauer JC
- Berger W
- Kelley PM
- Haralambous E
- Bitner-Glindzicz M
- Webster AR
- Saihan Z
- De Baere E
- Leroy BP
- Silvestri G
- McKay GJ
- Koenekoop RK
- Rosenberg T
- Joensuu T
- Sankila EM
- Weil D
- Weston MD
- Wissinger B
- Kremer H
Abstract
Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons.
Datos de la publicación
- ISSN/ISSNe:
- 0022-2593, 1468-6244
- Tipo:
- Article
- Páginas:
- 153-160
- PubMed:
- 16963483
- Factor de Impacto:
- 2,934 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
JOURNAL OF MEDICAL GENETICS BMJ PUBLISHING GROUP
Citas Recibidas en Web of Science: 90
Documentos
- No hay documentos
Filiaciones
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Cita
Cremers FP,Kimberling WJ,Külm M,de Brouwer AP,van E,te H,Cremers CW,Hoefsloot LH,Banfi S,Simonelli F,Fleischhauer JC,Berger W,Kelley PM,Haralambous E,Bitner M,Webster AR,Saihan Z,De Baere E,Leroy BP,Silvestri G,McKay GJ,Koenekoop RK,MILLAN JM,Rosenberg T,Joensuu T,Sankila EM,Weil D,Weston MD,Wissinger B,Kremer H. Development of a genotyping microarray for Usher syndrome. J. Med. Genet. 2007. 44. (2):p. 153-160. IF:5,535. (1).