메뉴 건너뛰기




Volumn 44, Issue 5, 2005, Pages 307-316

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

Author keywords

Phenotype genotype correlation; Progressive hearing loss; USH3; Usher syndrome; Usher syndrome type III; Vestibular deficiency

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUDIOMETRY; AUDITORY THRESHOLD; BINAURAL HEARING; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; MALE; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; USH3 GENE; USHER SYNDROME; VESTIBULAR DISORDER;

EID: 21344441012     PISSN: 14992027     EISSN: None     Source Type: Journal    
DOI: 10.1080/14992020500060610     Document Type: Article
Times cited : (31)

References (33)
  • 1
    • 0036021030 scopus 로고    scopus 로고
    • USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    • Adato, A., Vreugde, S., Joensuu, T., et al. 2002. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet, 10, 339-350.
    • (2002) Eur J Hum Genet , vol.10 , pp. 339-350
    • Adato, A.1    Vreugde, S.2    Joensuu, T.3
  • 2
    • 18444366182 scopus 로고    scopus 로고
    • CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
    • Astuto, L.M., Bork, J.M., Weston, M.D., et al. 2002. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet, 71, 262-275.
    • (2002) Am J Hum Genet , vol.71 , pp. 262-275
    • Astuto, L.M.1    Bork, J.M.2    Weston, M.D.3
  • 3
    • 0033646476 scopus 로고    scopus 로고
    • Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
    • Astuto, L.M., Weston, M.D., Carney, CA., et al. 2000. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet, 67, 1569-1574.
    • (2000) Am J Hum Genet , vol.67 , pp. 1569-1574
    • Astuto, L.M.1    Weston, M.D.2    Carney, C.A.3
  • 4
    • 0035158639 scopus 로고    scopus 로고
    • Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type ID
    • Bolz, H., von Brederlow, B., Ramirez, A., et al. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type ID. Nat Genet, 27, 108-112.
    • (2001) Nat Genet , vol.27 , pp. 108-112
    • Bolz, H.1    Von Brederlow, B.2    Ramirez, A.3
  • 5
    • 0020619770 scopus 로고
    • Usher syndrome: Definition and estimate of prevalence from two high-risk populations
    • Boughman, J.A., Vernon, M. & Shaver, K.A. 1983. Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chronic Dis, 36, 595-603.
    • (1983) J Chronic Dis , vol.36 , pp. 595-603
    • Boughman, J.A.1    Vernon, M.2    Shaver, K.A.3
  • 6
    • 0034973570 scopus 로고    scopus 로고
    • A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
    • Dreyer, B., Tranebjaerg, L., Brox, V., et al. 2001. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet, 69, 228-234.
    • (2001) Am J Hum Genet , vol.69 , pp. 228-234
    • Dreyer, B.1    Tranebjaerg, L.2    Brox, V.3
  • 7
    • 0036723958 scopus 로고    scopus 로고
    • Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations
    • Fields, R.R., Zhou, G., Huang, D., et al. 2002. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet, 71, 607-617.
    • (2002) Am J Hum Genet , vol.71 , pp. 607-617
    • Fields, R.R.1    Zhou, G.2    Huang, D.3
  • 9
    • 0037232415 scopus 로고    scopus 로고
    • Ear and hearing problems in Turner's syndrome
    • Hultcrantz, M. 2003. Ear and hearing problems in Turner's syndrome. Acta Otolaryngol, 123, 253-257.
    • (2003) Acta Otolaryngol , vol.123 , pp. 253-257
    • Hultcrantz, M.1
  • 11
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu, T., Hamalainen, R., Yuan, B., et al. 2001. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet, 69, 673-684.
    • (2001) Am J Hum Genet , vol.69 , pp. 673-684
    • Joensuu, T.1    Hamalainen, R.2    Yuan, B.3
  • 14
    • 0025308736 scopus 로고
    • Localization of Usher syndrome type II to chromosome 1q
    • Kimberling, W.J., Weston, M.D., Moller, C., et al. 1990. Localization of Usher syndrome type II to chromosome 1q. Genomics, 7, 245-249.
    • (1990) Genomics , vol.7 , pp. 245-249
    • Kimberling, W.J.1    Weston, M.D.2    Moller, C.3
  • 15
    • 17844368155 scopus 로고    scopus 로고
    • Haplotype analysis of the USH1D locus and genotype-phenotype correlations
    • Liu, X.Z., Blanton, S.H., Bitner-Glindzicz, M., et al. 2001. Haplotype analysis of the USH1D locus and genotype-phenotype correlations. Clin Genet, 60, 58-62.
    • (2001) Clin Genet , vol.60 , pp. 58-62
    • Liu, X.Z.1    Blanton, S.H.2    Bitner-Glindzicz, M.3
  • 17
    • 0142209180 scopus 로고    scopus 로고
    • Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
    • Ness, S.L., Ben-Yosef, T., Bar-Lev, A., et al. 2003. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet, 40, 767-772.
    • (2003) J Med Genet , vol.40 , pp. 767-772
    • Ness, S.L.1    Ben-Yosef, T.2    Bar-Lev, A.3
  • 18
    • 0014780501 scopus 로고
    • Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): A study of the Usher-or Hallgren syndrome
    • Nuutila, A. 1970. Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher-or Hallgren syndrome. J Genet Hum, 18, 57-88.
    • (1970) J Genet Hum , vol.18 , pp. 57-88
    • Nuutila, A.1
  • 24
    • 0028836898 scopus 로고
    • Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
    • Sankila, E.M., Pakarinen, L., Kaariainen, H., et al. 1995. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet, 4, 93-98.
    • (1995) Hum Mol Genet , vol.4 , pp. 93-98
    • Sankila, E.M.1    Pakarinen, L.2    Kaariainen, H.3
  • 26
    • 0031884319 scopus 로고    scopus 로고
    • Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
    • Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S.D., et al. 1998. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development, 125, 557-566.
    • (1998) Development , vol.125 , pp. 557-566
    • Self, T.1    Mahony, M.2    Fleming, J.3    Walsh, J.4    Brown, S.D.5
  • 28
    • 0032820018 scopus 로고    scopus 로고
    • Mapping of estrogen receptors alpha and beta in the inner ear of mouse and rat
    • Stenberg, A.E., Wang, H., Sahlin, L. & Hultcrantz, M. 1999. Mapping of estrogen receptors alpha and beta in the inner ear of mouse and rat. Hear Res, 136, 29-34.
    • (1999) Hear Res , vol.136 , pp. 29-34
    • Stenberg, A.E.1    Wang, H.2    Sahlin, L.3    Hultcrantz, M.4
  • 30
    • 21344466229 scopus 로고    scopus 로고
    • Hereditary Hearing Loss Homepage (HHH)
    • Van Camp, G., & Smith, R.J.H. 2004. Hereditary Hearing Loss Homepage (HHH). Available at: http://dnalab-www.uia.ac.be/dnalab/hhh/
    • (2004)
    • Van Camp, G.1    Smith, R.J.H.2
  • 31
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil, D., Blanchard, S., Kaplan, J., et al. 1995. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature, 374, 60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 32
    • 0033940001 scopus 로고    scopus 로고
    • Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
    • Weston, M.D., Eudy, J.D., Fujita, S., et al. 2000. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet, 66, 1199-1210.
    • (2000) Am J Hum Genet , vol.66 , pp. 1199-1210
    • Weston, M.D.1    Eudy, J.D.2    Fujita, S.3
  • 33
    • 0842328857 scopus 로고    scopus 로고
    • Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
    • Weston, M.D., Luijendijk, M.W., Humphrey, K.D., Moller, C. & Kimberling, W.J. 2004. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet, 74, 357-366.
    • (2004) Am J Hum Genet , vol.74 , pp. 357-366
    • Weston, M.D.1    Luijendijk, M.W.2    Humphrey, K.D.3    Moller, C.4    Kimberling, W.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.