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Volumn 147, Issue 5, 2012, Pages 932-936

Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations

Author keywords

Connexin 26; Connexin 30; DFNB1; GJB2; GJB6; Hereditary hearing loss; Mitochondrial DNA; Molecular genetic testing; Nonsyndromic sensorineural hearing loss

Indexed keywords

ALANINE; GLYCINE; MITOCHONDRIAL DNA; CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 84872077801     PISSN: 01945998     EISSN: 10976817     Source Type: Journal    
DOI: 10.1177/0194599812453553     Document Type: Article
Times cited : (9)

References (12)
  • 1
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening-A silent revolution
    • Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N Engl J Med. 2006;354:2151-2164.
    • (2006) N Engl J Med. , vol.354 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 2
    • 77955760684 scopus 로고    scopus 로고
    • Change in prevalence of hearing loss in US adolescents
    • Shargorodsky J, Curhan SG, Curhan GC, Eavey R. Change in prevalence of hearing loss in US adolescents. JAMA. 2010; 304:772-778.
    • (2010) JAMA , vol.304 , pp. 772-778
    • Shargorodsky, J.1    Curhan, S.G.2    Curhan, G.C.3    Eavey, R.4
  • 3
    • 34547749906 scopus 로고    scopus 로고
    • Clinical aspects of hereditary hearing loss
    • Kochhar A, Hildebrand MS, Smith RJ. Clinical aspects of hereditary hearing loss. Genet Med. 2007;9:393-408.
    • (2007) Genet Med. , vol.9 , pp. 393-408
    • Kochhar, A.1    Hildebrand, M.S.2    Smith, R.J.3
  • 4
    • 0032492217 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic and inherited sensorineural deafness
    • Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 1998; 351:394-398.
    • (1998) Lancet. , vol.351 , pp. 394-398
    • Estivill, X.1    Fortina, P.2    Surrey, S.3
  • 5
    • 0031949442 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    • Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998;62:792-799.
    • (1998) Am J Hum Genet. , vol.62 , pp. 792-799
    • Kelley, P.M.1    Harris, D.J.2    Comer, B.C.3
  • 6
    • 0034054301 scopus 로고    scopus 로고
    • Prevalence of mitochondrial gene mutations among hearing impaired patients
    • Usami S, Abe S, Akita J, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000;37:38-40.
    • (2000) J Med Genet. , vol.37 , pp. 38-40
    • Usami, S.1    Abe, S.2    Akita, J.3
  • 7
    • 9644287853 scopus 로고    scopus 로고
    • A diagnostic paradigm for childhood idiopathic sensorineural hearing loss
    • Preciado DA, Lim LH, Cohen AP, Madden C, et al. A diagnostic paradigm for childhood idiopathic sensorineural hearing loss. Otol Head Neck Surg. 2004;131:804-809.
    • (2004) Otol Head Neck Surg. , vol.131 , pp. 804-809
    • Preciado, D.A.1    Lim, L.H.2    Cohen, A.P.3    Madden, C.4
  • 8
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 1999;281:2211-2216.
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.E.1    Scott, D.A.2    McDonald, J.M.3    Woodworth, G.G.4    Sheffield, V.C.5    Smith, R.J.6
  • 9
    • 79953101972 scopus 로고    scopus 로고
    • Clinical comparison of hearing impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations
    • Lipan M, Ouyang XM, Yan D, Angeli S, Du LL, Liu XZ. Clinical comparison of hearing impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. Laryngoscope. 2011;121:811-814.
    • (2011) Laryngoscope. , vol.121 , pp. 811-814
    • Lipan, M.1    Ouyang, X.M.2    Yan, D.3    Angeli, S.4    Du, L.L.5    Liu, X.Z.6
  • 10
    • 17344365276 scopus 로고    scopus 로고
    • Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
    • Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998;62:27-35.
    • (1998) Am J Hum Genet. , vol.62 , pp. 27-35
    • Estivill, X.1    Govea, N.2    Barcelo, E.3
  • 11
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness. Nat Genet. 1993;4:289-294.
    • (1993) Nat Genet. , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 12
    • 18744411228 scopus 로고    scopus 로고
    • Coenzyme Q-10 treatment of patients with a 7445A.G mitochondrial DNA mutation stopped the progression of their hearing loss
    • Angeli SI, Liu XZ, Yan D, Balkany T, Telischi F. Coenzyme Q-10 treatment of patients with a 7445A.G mitochondrial DNA mutation stopped the progression of their hearing loss. Acta Otolaryngol. 2005;125:1-3.
    • (2005) Acta Otolaryngol. , vol.125 , pp. 1-3
    • Angeli, S.I.1    Liu, X.Z.2    Yan, D.3    Balkany, T.4    Telischi, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.