메뉴 건너뛰기




Volumn , Issue 540, 1999, Pages 34-37

Cochlear implantation for symptomatic hereditary deafness

Author keywords

Albinism deafness syndrome; Chronic progressive external ophthalmoplegia syndrome; Cochlear implantation; Deafness; Hereditary

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DE LANGE SYNDROME; DISEASE ASSOCIATION; GENETIC DISORDER; HEARING IMPAIRMENT; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; ICHTHYOSIS; IMPLANTATION; KEARNS SAYRE SYNDROME; KERATITIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPEECH INTELLIGIBILITY; USHER SYNDROME; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; GENETICS; OCULAR ALBINISM; SYNDROME;

EID: 0032588128     PISSN: 03655237     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (25)
  • 1
    • 0028819821 scopus 로고
    • Multichannel cochlear implantation in a child with Brachmann-de Lange syndrome
    • Pulec JL, Saadat D. Multichannel cochlear implantation in a child with Brachmann-de Lange syndrome. Otolaryngol Head Neck Surg 1995; 113: 641-3.
    • (1995) Otolaryngol Head Neck Surg , vol.113 , pp. 641-643
    • Pulec, J.L.1    Saadat, D.2
  • 2
    • 0030918529 scopus 로고    scopus 로고
    • Cochlear implant extrusion in a child with keratitis, ichthyosis and deafness syndrome
    • Hampton SM, Toner JG, Small J. Cochlear implant extrusion in a child with keratitis, ichthyosis and deafness syndrome. J Laryngol Otol 1997; 111: 465-7.
    • (1997) J Laryngol Otol , vol.111 , pp. 465-467
    • Hampton, S.M.1    Toner, J.G.2    Small, J.3
  • 3
    • 0030639199 scopus 로고    scopus 로고
    • Cochlear implantation in a patient with mitochondrial disease - Kearns-Sayre syndrome: A case report
    • Yamaguchi T, Himi T, Harabuchi Y, Hamamoto M, Kataura A. Cochlear implantation in a patient with mitochondrial disease - Kearns-Sayre syndrome: a case report. Adv Otorhinolaryngol 1997; 52: 321-3.
    • (1997) Adv Otorhinolaryngol , vol.52 , pp. 321-323
    • Yamaguchi, T.1    Himi, T.2    Harabuchi, Y.3    Hamamoto, M.4    Kataura, A.5
  • 4
    • 0029926636 scopus 로고    scopus 로고
    • Early diagnosis of usher syndrome in infants and children
    • Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996; 17: 30-4.
    • (1996) Am J Otol , vol.17 , pp. 30-34
    • Young, N.M.1    Mets, M.B.2    Hain, T.C.3
  • 6
    • 0041356247 scopus 로고
    • A new hereditary syndrome-sex-linked deal-mutism associated with total albinism
    • Margolis E. A new hereditary syndrome-sex-linked deal-mutism associated with total albinism. Acta Genet Stat Med 1962; 12: 12-9.
    • (1962) Acta Genet Stat Med , vol.12 , pp. 12-19
    • Margolis, E.1
  • 7
    • 0028917454 scopus 로고
    • Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome
    • Gross A, Kunze J, Maier RF, Stoltenburg DG, Grimmer I, Obladen M. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 1995; 56: 322-6.
    • (1995) Am J Med Genet , vol.56 , pp. 322-326
    • Gross, A.1    Kunze, J.2    Maier, R.F.3    Stoltenburg, D.G.4    Grimmer, I.5    Obladen, M.6
  • 8
    • 0027440498 scopus 로고
    • X-linked ocular albinism and sensorineural deafness: Linkage to Xp22.3
    • Winship IM, Babaya M, Ramesar RS. X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Genomics 1993; 18: 444-5.
    • (1993) Genomics , vol.18 , pp. 444-445
    • Winship, I.M.1    Babaya, M.2    Ramesar, R.S.3
  • 9
    • 0027325361 scopus 로고
    • Oculocerebral hypopigmentation syndrome associated with bartter syndrome
    • White CP, Waldron M, Jan JE, Carter JE. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. Am J Med Genet 1993; 46: 592-6.
    • (1993) Am J Med Genet , vol.46 , pp. 592-596
    • White, C.P.1    Waldron, M.2    Jan, J.E.3    Carter, J.E.4
  • 11
    • 0026531713 scopus 로고
    • Autosomal dominant inheritance of Klein-Waardenburg syndrome
    • Sheffer R, Zlotogora J. Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet 1992; 42: 330-2.
    • (1992) Am J Med Genet , vol.42 , pp. 330-332
    • Sheffer, R.1    Zlotogora, J.2
  • 12
    • 0019406679 scopus 로고
    • Whiteforelock, pigmentary disorder of irides, and long segment Hirschsprung's disease: Possible variant of Waardenburg syndrome
    • Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM, Whiteforelock, pigmentary disorder of irides, and long segment Hirschsprung's disease: possible variant of Waardenburg syndrome. J Pediatr 1981; 99: 432-5.
    • (1981) J Pediatr , vol.99 , pp. 432-435
    • Shah, K.N.1    Dalal, S.J.2    Desai, M.P.3    Sheth, P.N.4    Joshi, N.C.5    Ambani, L.M.6
  • 13
    • 0345135892 scopus 로고
    • Recessive total albinism and congenital deaf-mutism
    • Ziprkowski L, Adam A. Recessive total albinism and congenital deaf-mutism. Arch Dermatol 1964; 89: 151-5.
    • (1964) Arch Dermatol , vol.89 , pp. 151-155
    • Ziprkowski, L.1    Adam, A.2
  • 14
    • 0025375331 scopus 로고
    • Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3 -q27.1
    • Shiloh Y, Litvak G, Ziv Y, et al. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3 -q27.1. Am J Hum Genet 1990; 47: 20-7.
    • (1990) Am J Hum Genet , vol.47 , pp. 20-27
    • Shiloh, Y.1    Litvak, G.2    Ziv, Y.3
  • 15
    • 0028091741 scopus 로고
    • Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
    • Steingrímsson E, Moore KJ, Lamoreux ML, et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 1994; 8: 256-63.
    • (1994) Nat Genet , vol.8 , pp. 256-263
    • Steingrímsson, E.1    Moore, K.J.2    Lamoreux, M.L.3
  • 17
    • 0030012628 scopus 로고    scopus 로고
    • Analyses of loss-of-function mutations of the MTTF gene suggest that haploinsufficiency is a cause of waardenburg syndrome type 2A
    • Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Analyses of loss-of-function mutations of the MTTF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 1996; 59: 76-83.
    • (1996) Am J Hum Genet , vol.59 , pp. 76-83
    • Nobukuni, Y.1    Watanabe, A.2    Takeda, K.3    Skarka, H.4    Tachibana, M.5
  • 18
    • 0028376333 scopus 로고
    • Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse
    • Cable J, Huszar D, Jaenisch R, Steel KP. Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse. Pigment Cell Res 1994; 7: 17-32.
    • (1994) Pigment Cell Res , vol.7 , pp. 17-32
    • Cable, J.1    Huszar, D.2    Jaenisch, R.3    Steel, K.P.4
  • 19
    • 0027960698 scopus 로고
    • Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice
    • Motohashi H, Hozawa K, Oshima T, Takeuchi T, Takasaka T. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hear Res 1994; 80: 10-20.
    • (1994) Hear Res , vol.80 , pp. 10-20
    • Motohashi, H.1    Hozawa, K.2    Oshima, T.3    Takeuchi, T.4    Takasaka, T.5
  • 20
    • 0024314157 scopus 로고
    • Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear
    • Steel KP, Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development 1989; 107: 453-63.
    • (1989) Development , vol.107 , pp. 453-463
    • Steel, K.P.1    Barkway, C.2
  • 21
    • 0024798264 scopus 로고
    • Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
    • Holt IJ, Harding AE, Cooper JM, et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 1989; 26: 699-708.
    • (1989) Ann Neurol , vol.26 , pp. 699-708
    • Holt, I.J.1    Harding, A.E.2    Cooper, J.M.3
  • 23
    • 0029010022 scopus 로고
    • Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases
    • Kawai H, Akaike M, Yokoi K, et al. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve 1995; 18: 753-60.
    • (1995) Muscle Nerve , vol.18 , pp. 753-760
    • Kawai, H.1    Akaike, M.2    Yokoi, K.3
  • 24
    • 0021319974 scopus 로고
    • Das kearns-Sayre-syndrome aushals-nasen-ohrenärtlicher Sicht
    • Weidauer H, Lenarz T. Das Kearns-Sayre-syndrome aushals-nasen-ohrenärtlicher Sicht. Laryngol Rhinol Otol 1984; 63: 141-6.
    • (1984) Laryngol Rhinol Otol , vol.63 , pp. 141-146
    • Weidauer, H.1    Lenarz, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.