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Volumn 8, Issue 4, 2006, Pages 483-489

Detection of mutations in genes associated with hearing loss using a microarray-based approach

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL DNA; PENDRIN;

EID: 33748612427     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050147     Document Type: Article
Times cited : (23)

References (28)
  • 1
    • 0032717469 scopus 로고    scopus 로고
    • Benefits of early intervention for children with hearing loss
    • Yoshinaga-Itano C: Benefits of early intervention for children with hearing loss. Otolaryngol Clin North Am 1999, 32:1089-1102
    • (1999) Otolaryngol Clin North Am , vol.32 , pp. 1089-1102
    • Yoshinaga-Itano, C.1
  • 3
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE: Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991, 630:16-31
    • (1991) Ann NY Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 4
    • 0029807805 scopus 로고    scopus 로고
    • Genes responsible for human hereditary deafness: Symphony of a thousand
    • Petit C: Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996, 14:385-391
    • (1996) Nat Genet , vol.14 , pp. 385-391
    • Petit, C.1
  • 5
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • Kenneson A, Van Naarden Braun K, Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002, 4:258-274
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 7
    • 0033062827 scopus 로고    scopus 로고
    • Pendred's syndrome: Identification of the genetic defect a century after its recognition
    • Kopp P: Pendred's syndrome: identification of the genetic defect a century after its recognition. Thyroid 1999, 9:65-69
    • (1999) Thyroid , vol.9 , pp. 65-69
    • Kopp, P.1
  • 11
    • 0032526489 scopus 로고    scopus 로고
    • Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41
    • Eudy JD, Yao S, Weston MD, Ma-Edmonds M, Talmadge CB, Cheng JJ, Kimberling WJ, Sumegi J: Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Genomics 1998, 50:382-384
    • (1998) Genomics , vol.50 , pp. 382-384
    • Eudy, J.D.1    Yao, S.2    Weston, M.D.3    Ma-Edmonds, M.4    Talmadge, C.B.5    Cheng, J.J.6    Kimberling, W.J.7    Sumegi, J.8
  • 15
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    • Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L: High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 2003, 22:549-556
    • (2003) Gen Physiol Biophys , vol.22 , pp. 549-556
    • Minarik, G.1    Ferak, V.2    Ferakova, E.3    Ficek, A.4    Polakova, H.5    Kadasi, L.6
  • 17
    • 0037405984 scopus 로고    scopus 로고
    • Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating
    • Tekin M, Duman T, Bogoclu G, Incesulu A, Comak E, Ilhan I, Akar N: Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat 2003, 21:552-553
    • (2003) Hum Mutat , vol.21 , pp. 552-553
    • Tekin, M.1    Duman, T.2    Bogoclu, G.3    Incesulu, A.4    Comak, E.5    Ilhan, I.6    Akar, N.7
  • 20
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
    • Brobby GW, Muller-Myhsok B, Horstmann RD: Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998, 338:548-550
    • (1998) N Engl J Med , vol.338 , pp. 548-550
    • Brobby, G.W.1    Muller-Myhsok, B.2    Horstmann, R.D.3
  • 24
    • 0034614011 scopus 로고    scopus 로고
    • Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
    • Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D: Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 2000, 95:53-56
    • (2000) Am J Med Genet , vol.95 , pp. 53-56
    • Lerer, I.1    Sagi, M.2    Malamud, E.3    Levi, H.4    Raas-Rothschild, A.5    Abeliovich, D.6
  • 25
    • 0036824349 scopus 로고    scopus 로고
    • Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria
    • Gallo-Teran J, Morales-Angulo C, del Castillo I, Villamar M, Moreno-Pelayo MA, Garcia-Mantilla J, Moreno F: Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria. Acta Otorrinolaringol Esp 2002, 53:563-571
    • (2002) Acta Otorrinolaringol Esp , vol.53 , pp. 563-571
    • Gallo-Teran, J.1    Morales-Angulo, C.2    del Castillo, I.3    Villamar, M.4    Moreno-Pelayo, M.A.5    Garcia-Mantilla, J.6    Moreno, F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.