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Volumn 58, Issue 4, 2009, Pages 216-222

Value of genetic testing in the otological approach for sensorineural hearing loss

Author keywords

Cochlea; Deafness gene; Hereditary hearing loss; Inner ear

Indexed keywords

3 NITROPROPIONIC ACID; BENZYLOXYCARBONYLVALYLALANYLASPARTYL FLUOROMETHYL KETONE; MITOCHONDRIAL RNA; RIBOSOME RNA;

EID: 75149192021     PISSN: 00229717     EISSN: 18801293     Source Type: Journal    
DOI: 10.2302/kjm.58.216     Document Type: Review
Times cited : (33)

References (26)
  • 1
    • 14744282666 scopus 로고    scopus 로고
    • Sensorineural hearing loss in children
    • Smith RJ, Bale JF Jr, White KR: Sensorineural hearing loss in children. Lancet 2005; 365: 879-890
    • (2005) Lancet , vol.365 , pp. 879-890
    • Smith, R.J.1    Bale Jr, J.F.2    White, K.R.3
  • 2
    • 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
  • 3
    • 0034643491 scopus 로고    scopus 로고
    • Genetic causes of hearing loss
    • Willems PJ: Genetic causes of hearing loss. N Engl J Med 2000; 342: 1101-1109
    • (2000) N Engl J Med , vol.342 , pp. 1101-1109
    • Willems, P.J.1
  • 4
    • 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
  • 8
    • 28144444402 scopus 로고    scopus 로고
    • Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J,Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M,Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, AvrahamKB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T,Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH,Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G,Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77: 945-957
    • Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J,Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M,Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, AvrahamKB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T,Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH,Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G,Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77: 945-957
  • 11
    • 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
    • Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: 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. J Med Genet 2005; 42: 159-165
    • (2005) J Med Genet , vol.42 , 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
  • 12
    • 13844250411 scopus 로고    scopus 로고
    • Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside
    • Matsunaga T, Kumanomido H, Shiroma M, Goto Y, Usami S: Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside. Ann Otol Rhinol Laryngol 2005; 114: 153-160
    • (2005) Ann Otol Rhinol Laryngol , vol.114 , pp. 153-160
    • Matsunaga, T.1    Kumanomido, H.2    Shiroma, M.3    Goto, Y.4    Usami, S.5
  • 16
    • 0031728855 scopus 로고    scopus 로고
    • Language of early- and later-identified children with hearing loss
    • Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL: Language of early- and later-identified children with hearing loss. Pediatrics 1998; 102: 1161-1171
    • (1998) Pediatrics , vol.102 , pp. 1161-1171
    • Yoshinaga-Itano, C.1    Sedey, A.L.2    Coulter, D.K.3    Mehl, A.L.4
  • 17
    • 30644460913 scopus 로고    scopus 로고
    • Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids
    • Matsunaga T, Hirota E, Bito S, Niimi S, Usami S: Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids. Audiol Neurootol 2006; 11: 59-68
    • (2006) Audiol Neurootol , vol.11 , pp. 59-68
    • Matsunaga, T.1    Hirota, E.2    Bito, S.3    Niimi, S.4    Usami, S.5
  • 18
    • 0031004773 scopus 로고    scopus 로고
    • Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
    • Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ: Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997; 107: 483-490
    • (1997) Laryngoscope , vol.107 , pp. 483-490
    • Usami, S.1    Abe, S.2    Kasai, M.3    Shinkawa, H.4    Moeller, B.5    Kenyon, J.B.6    Kimberling, W.J.7
  • 19
    • 34247898894 scopus 로고    scopus 로고
    • Diagnosis of Alport syndrome without biopsy?
    • Gubler MC: Diagnosis of Alport syndrome without biopsy? Pediatr Nephrol 2007; 22: 621-625
    • (2007) Pediatr Nephrol , vol.22 , pp. 621-625
    • Gubler, M.C.1
  • 22
    • 44849114793 scopus 로고    scopus 로고
    • Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, SantarelliR, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 2008; 29: 823-831
    • Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, SantarelliR, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 2008; 29: 823-831
  • 23
    • 3242773612 scopus 로고    scopus 로고
    • A novel animal model of acute cochlear mitochondrial dysfunction
    • Hoya N, Okamoto Y, Kamiya K, Fujii M, Matsunaga T: A novel animal model of acute cochlear mitochondrial dysfunction. Neuroreport 2004; 15: 1597-1600
    • (2004) Neuroreport , vol.15 , pp. 1597-1600
    • Hoya, N.1    Okamoto, Y.2    Kamiya, K.3    Fujii, M.4    Matsunaga, T.5
  • 24
    • 20844458850 scopus 로고    scopus 로고
    • Permanent threshold shift caused by acute cochlear mitochondrial dysfunction is primarily mediated by degeneration of the lateral wall of the cochlea
    • Okamoto Y, Hoya N, Kamiya K, Fujii M, Ogawa K, Matsunaga T: Permanent threshold shift caused by acute cochlear mitochondrial dysfunction is primarily mediated by degeneration of the lateral wall of the cochlea. Audiol Neurootol 2005; 10: 220-233
    • (2005) Audiol Neurootol , vol.10 , pp. 220-233
    • Okamoto, Y.1    Hoya, N.2    Kamiya, K.3    Fujii, M.4    Ogawa, K.5    Matsunaga, T.6
  • 25
    • 38049011064 scopus 로고    scopus 로고
    • Caspase inhibitor facilitates recovery of hearing by protecting the cochlear lateral wall from acute cochlear mitochondrial dysfunction
    • Mizutari K, Matsunaga T, Kamiya K, Fujinami Y, Fujii M, Ogawa K: Caspase inhibitor facilitates recovery of hearing by protecting the cochlear lateral wall from acute cochlear mitochondrial dysfunction. J Neurosci Res 2008; 86: 215-222
    • (2008) J Neurosci Res , vol.86 , pp. 215-222
    • Mizutari, K.1    Matsunaga, T.2    Kamiya, K.3    Fujinami, Y.4    Fujii, M.5    Ogawa, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.