메뉴 건너뛰기




Volumn 5, Issue SUPPL. 1, 2012, Pages

Genetic screening of GJB2 and SLC26A4 in Korean cochlear implantees: Experience of Soree Ear Clinic

Author keywords

Cochlear implants; Connexin 26; GJB2 protein; Pendred syndrome; SLC26A4 protein

Indexed keywords


EID: 84862279330     PISSN: 19768710     EISSN: 20050720     Source Type: Journal    
DOI: 10.3342/ceo.2012.5.S1.S10     Document Type: Conference Paper
Times cited : (32)

References (21)
  • 1
    • 20444497777 scopus 로고    scopus 로고
    • Sensorineural hearing loss in children
    • Jun. 18-24
    • Rennels M, Pickering LK. Sensorineural hearing loss in children. Lancet. 2005 Jun. 18-24;365(9477):2085-6.
    • (2005) Lancet. , vol.365 , Issue.9477 , pp. 2085-2086
    • Rennels, M.1    Pickering, L.K.2
  • 3
    • 80055117714 scopus 로고    scopus 로고
    • Hereditary hearing loss: From human mutation to mechanism
    • Nov.
    • Lenz DR, Avraham KB. Hereditary hearing loss: from human mutation to mechanism. Hear Res. 2011 Nov; 281(1-2):3-10.
    • (2011) Hear Res. , vol.281 , Issue.1-2 , pp. 3-10
    • Lenz, D.R.1    Avraham, K.B.2
  • 4
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Sep.
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep; 110(9):1535-8.
    • (2000) Laryngoscope. , vol.110 , Issue.9 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 9
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening - A silent revolution
    • DOI 10.1056/NEJMra050700
    • Morton CC, Nance WE. Newborn hearing screening: a silent revolution. N Engl J Med. 2006 May 18;354(20):2151-64. (Pubitemid 43736615)
    • (2006) New England Journal of Medicine , vol.354 , Issue.20 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 11
    • 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. 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 Dec; 11(12):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
  • 12
    • 84984538388 scopus 로고    scopus 로고
    • Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations
    • Jul-Aug.
    • Wu CC, Chen PJ, Hsu CJ. Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. Audiol Neurootol. 2005 Jul-Aug; 10(4):234-42.
    • (2005) Audiol Neurootol. , vol.10 , Issue.4 , pp. 234-242
    • Wu, C.C.1    Chen, P.J.2    Hsu, C.J.3
  • 20
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [4]
    • DOI 10.1056/NEJM199802193380812
    • Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med. 1998 Feb. 19;338(8):548-50. (Pubitemid 28103143)
    • (1998) New England Journal of Medicine , vol.338 , Issue.8 , pp. 548-550
    • Brobby, G.W.1    Muller-Myhsok, B.2    Horstmann, R.D.3
  • 21
    • 4344656951 scopus 로고    scopus 로고
    • Early hearing detection and intervention programs: Opportunities for genetic services
    • White KR. Early hearing detection and intervention programs: opportunities for genetic services. Am J Med Genet A. 2004 Sep. 15; 130 A (1): 29-36. (Pubitemid 39121557)
    • (2004) American Journal of Medical Genetics , vol.130 A , Issue.1 , pp. 29-36
    • White, K.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.