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Volumn 70, Issue , 2011, Pages 37-42

Nonsyndromic hereditary hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUDIOMETRY; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HEARING LOSS; HEREDITY; HUMAN; PATIENT REFERRAL; PHENOTYPE; RISK ASSESSMENT; SYNDROME;

EID: 79952395776     PISSN: 00653071     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000322867     Document Type: Article
Times cited : (8)

References (28)
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    • Genetic Evaluation of Congenital Hearing Loss Expert Panel: Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med 2004;4:162-171.
    • (2004) Genet. Med. , vol.4 , pp. 162-171
  • 6
    • 0035047780 scopus 로고    scopus 로고
    • W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness
    • DOI 10.1034/j.1399-0004.2001.590409.x
    • Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A: W44C mutation in the connexin 26 gene associated with dominant non- syndromic deafness. Clin Genet 2001;59:269-273. (Pubitemid 32318394)
    • (2001) Clinical Genetics , vol.59 , Issue.4 , pp. 269-273
    • Tekin, M.1    Arnos, K.S.2    Xia, X.J.3    Oelrich, M.K.4    Liu, X.Z.5    Nance, W.E.6    Pandya, A.7
  • 11
    • 0030707797 scopus 로고    scopus 로고
    • Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
    • DOI 10.1126/science.278.5341.1315
    • Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC: Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997;278:1315-1318. (Pubitemid 27495747)
    • (1997) Science , vol.278 , Issue.5341 , pp. 1315-1318
    • Lynch, E.D.1    Lee, M.K.2    Morrow, J.E.3    Welcsh, P.L.4    Leon, P.E.5    King, M.-C.6
  • 22
    • 0033812813 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with nonsyndromic hearing loss
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN: Connexin 26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535-1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 25
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
    • Lerer I, Sagi M, Ben- Neriah Z, Wang T, Levi H, Abeliovich D: A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non- syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat 2001; 18:460.
    • (2001) Hum. Mutat. , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 28
    • 13444254030 scopus 로고    scopus 로고
    • SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
    • DOI 10.1136/jmg.2004.024208
    • Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: SLC26A4/PDS genotypephenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non- syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005;42:159-165. (Pubitemid 40204371)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.2 , pp. 159-165
    • Pryor, S.P.1    Madeo, A.C.2    Reynolds, J.C.3    Sarlis, N.J.4    Arnos, K.S.5    Nance, W.E.6    Yang, Y.7    Zalewski, C.K.8    Brewer, C.C.9    Butman, J.A.10    Griffith, A.J.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.