메뉴 건너뛰기




Volumn 126, Issue 4, 2012, Pages 349-355

Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct

Author keywords

Child; Cochlear Implantation; DNA Sequence Analysis; Hearing Loss, Sensorineural; Microarray Analysis; Vestibular Aqueduct

Indexed keywords

ALANINE; ARGININE; DNA; GLYCINE; HISTIDINE; PENDRIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXI1; UNCLASSIFIED DRUG;

EID: 84859128439     PISSN: 00222151     EISSN: 17485460     Source Type: Journal    
DOI: 10.1017/S002221511100346X     Document Type: Review
Times cited : (20)

References (24)
  • 1
    • 42649127764 scopus 로고    scopus 로고
    • Cochlear molecules and hereditary deafness
    • DOI 10.2741/3056
    • Yan D, Liu XZ. Cochlear molecules and hereditary deafness. Front Biosci 2008;13:4972-83 (Pubitemid 351599651)
    • (2008) Frontiers in Bioscience , vol.13 , Issue.13 , pp. 4972-4983
    • Yan, D.1    Liu, X.-Z.2
  • 3
    • 0020549791 scopus 로고
    • The large vestibular aqueduct and associated anomalies of the inner ear
    • Valvassori GE. The large vestibular aqueduct and associated anomalies in the inner ear. Otolaryngol Clin North Am 1983; 16:95-101 (Pubitemid 13084512)
    • (1983) Otolaryngologic Clinics of North America , vol.16 , Issue.1 , pp. 95-101
    • Valvassori, G.E.1
  • 7
    • 60849104831 scopus 로고    scopus 로고
    • Speech recognition and temporal amplitude modulation processing by Mandarin-speaking cochlear implant users
    • Luo X, Fu QJ, Wei CG, Cao KL. Speech recognition and temporal amplitude modulation processing by Mandarin-speaking cochlear implant users. Ear Hear 2008;29:957-70
    • (2008) Ear Hear , vol.29 , pp. 957-970
    • Luo, X.1    Fu, Q.J.2    Wei, C.G.3    Cao, K.L.4
  • 8
    • 69549107525 scopus 로고    scopus 로고
    • Concurrent-vowel and tone recognition by Mandarin-speaking cochlear implant users
    • Luo X, Fu QJ, Wu HP, Hsu CJ. Concurrent-vowel and tone recognition by Mandarin-speaking cochlear implant users. Hear Res 2009;256:75-84
    • (2009) Hear Res , vol.256 , pp. 75-84
    • Luo, X.1    Fu, Q.J.2    Wu, H.P.3    Hsu, C.J.4
  • 9
    • 47349089127 scopus 로고    scopus 로고
    • The Mainland Mandarin hearing in noise test
    • DOI 10.1080/14992020701870221, PII 790609519, Assessment of Speech Communication Handicap
    • Wong LL, Liu S, Han N. The Mainland Mandarin hearing in noise test. Int J Audiol 2008;47:393-5 (Pubitemid 351998866)
    • (2008) International Journal of Audiology , vol.47 , Issue.6 , pp. 393-395
    • Wong, L.L.N.1    Liu, S.2    Han, N.3
  • 11
    • 34249669521 scopus 로고    scopus 로고
    • Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients
    • in Chinese
    • Dai P, Yu F, Kang DY, Zhang X, Liu X, Mi WZ et al. Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients [in Chinese]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2005;40:769-73
    • (2005) Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi , vol.40 , pp. 769-773
    • Dai, P.1    Yu, F.2    Kang, D.Y.3    Zhang, X.4    Liu, X.5    Mi, W.Z.6
  • 12
    • 34249741683 scopus 로고    scopus 로고
    • Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum
    • DOI 10.1007/s10038-007-0139-0
    • Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum [in Chinese]. J Hum Genet 2007;52:492-7 (Pubitemid 46835819)
    • (2007) Journal of Human Genetics , vol.52 , Issue.6 , pp. 492-497
    • Hu, H.1    Wu, L.2    Feng, Y.3    Pan, Q.4    Long, Z.5    Li, J.6    Dai, H.7    Xia, K.8    Liang, D.9    Niikawa, N.10    Xia, J.11
  • 14
    • 70349323159 scopus 로고    scopus 로고
    • Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct
    • Reyes S, Wang G, Ouyang X, Han B, Du LL, Yuan HJ et al. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg 2009;141:502-8
    • (2009) Otolaryngol Head Neck Surg , vol.141 , pp. 502-508
    • Reyes, S.1    Wang, G.2    Ouyang, X.3    Han, B.4    Du, L.L.5    Yuan, H.J.6
  • 15
    • 80053385314 scopus 로고    scopus 로고
    • An investigation of SLC26A4 gene mutation in nonsyndromic hearing impairment in Hunan province of China
    • in Chinese
    • Jiang L, Feng Y, Chen H, He C, Mei L. An investigation of SLC26A4 gene mutation in nonsyndromic hearing impairment in Hunan province of China [in Chinese]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2010;24:587-91
    • (2010) Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi , vol.24 , pp. 587-591
    • Jiang, L.1    Feng, Y.2    Chen, H.3    He, C.4    Mei, L.5
  • 17
    • 0036283790 scopus 로고    scopus 로고
    • Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: Implications for thyroid dysfunction in pendred syndrome
    • DOI 10.1210/jc.87.4.1778
    • Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 2002;87:1778-84 (Pubitemid 34615268)
    • (2002) Journal of Clinical Endocrinology and Metabolism , vol.87 , Issue.4 , pp. 1778-1784
    • Taylor, J.P.1    Metcalfe, R.A.2    Watson, P.F.3    Weetman, A.P.4    Trembath, R.C.5
  • 18
    • 34250803246 scopus 로고    scopus 로고
    • Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
    • DOI 10.1086/518314
    • Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJH. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 2007;80:1055-63 (Pubitemid 47579342)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.6 , pp. 1055-1063
    • Yang, T.1    Vidarsson, H.2    Rodrigo-Blomqvist, S.3    Rosengren, S.S.4    Enerback, S.5    Smith, R.J.H.6
  • 20
    • 63149159240 scopus 로고    scopus 로고
    • The genetic bases for non-syndromic hearing loss among Chinese
    • Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY et al. The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet 2009;54:131-40
    • (2009) J Hum Genet , vol.54 , pp. 131-140
    • Ouyang, X.M.1    Yan, D.2    Yuan, H.J.3    Pu, D.4    Du, L.L.5    Han, D.Y.6
  • 21
    • 0346025681 scopus 로고    scopus 로고
    • 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
    • DOI 10.1038/sj.ejhg.5201073
    • Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S et al. 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 2003;11: 916-22 (Pubitemid 38072157)
    • (2003) European Journal of Human Genetics , vol.11 , Issue.12 , pp. 916-922
    • Tsukamoto, K.1    Suzuki, H.2    Harada, D.3    Namba, A.4    Abe, S.5    Usami, S.-I.6
  • 24
    • 63749096761 scopus 로고    scopus 로고
    • Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
    • Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30:599-608
    • (2009) Hum Mutat , vol.30 , pp. 599-608
    • Choi, B.Y.1    Stewart, A.K.2    Madeo, A.C.3    Pryor, S.P.4    Lenhard, S.5    Kittles, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.