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Volumn 130, Issue 13, 2000, Pages 485-489

Inherited hearing loss: New diagnostic possibilities;Erbliche schwerhorigkeit: Neue moglichkeiten der diagnostik

Author keywords

Connexin; Genetic hearing loss; Linkage analysis; Mutation analysis

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 0034169610     PISSN: 00367672     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (10)
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    • Kalatzis, V.1    Petit, C.2
  • 4
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIA
    • Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, MaEdmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIA. Science 1998;280:1753-7.
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3    Hoover, D.M.4    Rehm, H.L.5    Maedmonds, M.6
  • 5
    • 0033358594 scopus 로고    scopus 로고
    • A mutation (2314delG) in the Usher syndrome type IIA gene: High prevalence and phenotypic variation
    • Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999;64:1221-5.
    • (1999) Am J Hum Genet , vol.64 , pp. 1221-1225
    • Liu, X.Z.1    Hope, C.2    Liang, C.Y.3    Zou, J.M.4    Xu, L.R.5    Cole, T.6
  • 6
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
    • Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997;17:268-9.
    • (1997) Nat Genet , vol.17 , pp. 268-269
    • Liu, X.Z.1    Walsh, J.2    Tamagawa, Y.3    Kitamura, K.4    Nishizawa, M.5    Steel, K.P.6
  • 7
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin VIIA gene
    • Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin VIIA gene. Nat Genet 1997;16:191-3.
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3    Levy, G.4    Levi-Acobas, F.5    Drira, M.6
  • 9
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DENBI) in mediterraneans
    • Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DENBI) in mediterraneans. Hum Mol Genet 1997;6:1605-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3    Melchionda, S.4    D'Agruma, L.5    Govea, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.