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Titolo:
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis
Autore:
Namba, A; Abe, S; Shinkawa, H; Kimberling, WJ; Usami, S;
Indirizzi:
Shinshu Univ, Sch Med, Dept Otorhinolaryngol, Matsumoto, Nagano 3908621, Japan Shinshu Univ Matsumoto Nagano Japan 3908621 sumoto, Nagano 3908621, Japan Hirosaki Univ, Sch Med, Dept Otorhinolaryngol, Hirosaki, Aomori 036, JapanHirosaki Univ Hirosaki Aomori Japan 036 ngol, Hirosaki, Aomori 036, Japan Boys Town Natl Res Hosp, Dept Genet, Omaha, NE 68131 USA Boys Town Natl Res Hosp Omaha NE USA 68131 ept Genet, Omaha, NE 68131 USA
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 9, volume: 46, anno: 2001,
pagine: 518 - 521
SICI:
1434-5161(2001)46:9<518:GFOHLA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
ENLARGED VESTIBULAR AQUEDUCT; BRANCHIOOTORENAL SYNDROME; COMPUTED-TOMOGRAPHY; PENDRED-SYNDROME; BOR SYNDROME; INNER-EAR; MALFORMATIONS; FAMILY;
Keywords:
PDS; EYA1; ear anomaly; enlarged vestibular aqueduct; mutation analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Usami, S Shinshu Univ, Sch Med, Dept Otorhinolaryngol, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ 3-1-1 Asahi Matsumoto Nagano Japan 3908621 21, Japan
Citazione:
A. Namba et al., "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis", J HUM GENET, 46(9), 2001, pp. 518-521

Abstract

Mutation analysis of the PDS gene and the EYA1 gene, which are reported tobe responsible for hearing loss associated with ear anomalies. was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with car pits and cervical fistulae. indicating that these two genes are associated with particular forms of middle and inner ear malformation. The genetic approach provides a strong tool for the diagnosis of hearing loss associated with ear anomalies.

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Documento generato il 22/02/20 alle ore 10:57:59