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Volumn 161, Issue 9, 2013, Pages 2226-2233

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China

Author keywords

Enlargement of vestibular aqueduct; Hearing impairment; Mutation; SLC26A4

Indexed keywords

PENDRIN;

EID: 84881659975     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36068     Document Type: Article
Times cited : (32)

References (14)
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    • Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. 2003. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese. Eur J Hum Genet 11:916-922.
    • (2003) Eur J Hum Genet , vol.11 , pp. 916-922
    • Tsukamoto, K.1    Suzuki, H.2    Harada, D.3    Namba, A.4    Abe, S.5    Usami, S.6
  • 9
    • 0017973478 scopus 로고
    • The large vestibular aqueduct syndrome
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    • Valvassori, G.E.1    Clemis, J.D.2
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    • 84984593150 scopus 로고    scopus 로고
    • Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome
    • Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ. 2010. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol Neurootol 15:57-66.
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    • Wu, C.C.1    Lu, Y.C.2    Chen, P.J.3    Yeh, P.L.4    Su, Y.N.5    Hwu, W.L.6    Hsu, C.J.7
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    • Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome
    • Yang T, Gurrola JG II, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ. 2009. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet 84:651-657.
    • (2009) Am J Hum Genet , vol.84 , pp. 651-657
    • Yang, T.1    Gurrola II, J.G.2    Wu, H.3    Chiu, S.M.4    Wangemann, P.5    Snyder, P.M.6    Smith, R.J.7
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    • Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
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    • Yang, T.1    Vidarsson, H.2    Rodrigo-Blomqvist, S.3    Rosengren, S.S.4    Enerback, S.5    Smith, R.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.