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Volumn 261, Issue 5, 2004, Pages 259-261

Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece

Author keywords

Audiological profile; Congenital sensorineural hearing loss; Connexin 26; GJB2 mutation; Prevention

Indexed keywords

CONNEXIN 26; GENOMIC DNA;

EID: 2542421055     PISSN: 09374477     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00405-003-0679-7     Document Type: Article
Times cited : (9)

References (15)
  • 1
    • 0028272402 scopus 로고
    • Towards appropriate epidemiology data on childhood hearing disability: A comparative European study of birth-cohorts 1982-1988
    • Davis A, Parving A (1994) Towards appropriate epidemiology data on childhood hearing disability: a comparative European study of birth-cohorts 1982-1988. J Audiol Med 3:35-47
    • (1994) J Audiol Med , vol.3 , pp. 35-47
    • Davis, A.1    Parving, A.2
  • 2
    • 0026723618 scopus 로고
    • The epidemiology of childhood hearing impairment: Factors relevant to planning of services
    • Davis A, Wood S (1992) The epidemiology of childhood hearing impairment: factors relevant to planning of services. Br J Audiol 26:77-90
    • (1992) Br J Audiol , vol.26 , pp. 77-90
    • Davis, A.1    Wood, S.2
  • 3
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R, Gasparini P, Estivill X (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16:190-202
    • (2000) Hum Mutat , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 6
    • 0033014505 scopus 로고    scopus 로고
    • High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
    • Antoniadi T, Rabionet R, Kroupis C, Aperis GA, Economides J, Petmezakis J, et al (1999) High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 55:381-382
    • (1999) Clin Genet , vol.55 , pp. 381-382
    • Antoniadi, T.1    Rabionet, R.2    Kroupis, C.3    Aperis, G.A.4    Economides, J.5    Petmezakis, J.6
  • 9
    • 0033600946 scopus 로고    scopus 로고
    • Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
    • Cohn ES, Kelley PM (1999) Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet (Semin Med Genet) 89:130-136
    • (1999) Am J Med Genet (Semin Med Genet) , vol.89 , pp. 130-136
    • Cohn, E.S.1    Kelley, P.M.2
  • 11
    • 0034096496 scopus 로고    scopus 로고
    • High frequency hearing loss correlated with mutations in the GJB2 gene
    • Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, et al (2000) High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 106:399-405
    • (2000) Hum Genet , vol.106 , pp. 399-405
    • Wilcox, S.A.1    Saunders, K.2    Osborn, A.H.3    Arnold, A.4    Wunderlich, J.5
  • 12
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNBl, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al (1999) Clinical features of the prevalent form of childhood deafness, DFNBl, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353:1298-1303
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6
  • 13
    • 0032877067 scopus 로고    scopus 로고
    • Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - Molecular and audiological findings
    • Mueller RF, Nehammer A, Middleton A, Houseman M, Taylor GR, et al (1999) Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - molecular and audiological findings. Int J Pediatr Otorhinolaryngol 50:3-13
    • (1999) Int J Pediatr Otorhinolaryngol , vol.50 , pp. 3-13
    • Mueller, R.F.1    Nehammer, A.2    Middleton, A.3    Houseman, M.4    Taylor, G.R.5
  • 14
    • 0033037643 scopus 로고    scopus 로고
    • Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
    • Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, et al (1999) Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 103:546-550
    • (1999) Pediatrics , vol.103 , pp. 546-550
    • Cohn, E.S.1    Kelley, P.M.2    Fowler, T.W.3    Gorga, M.P.4    Lefkowitz, D.M.5    Kuehn, H.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.