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Volumn 37, Issue 4, 2000, Pages 256-262

Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q

Author keywords

Chromosome 5q; Hearing loss; Retinitis pigmentosa; Usher syndrome

Indexed keywords

ARTICLE; CHROMOSOME 1Q; CHROMOSOME 3Q; CHROMOSOME 5Q; GENE LOCUS; GENETIC HETEROGENEITY; HAPLOTYPE; HEARING LOSS; HUMAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME;

EID: 1642586741     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.4.256     Document Type: Article
Times cited : (44)

References (22)
  • 2
    • 0029202639 scopus 로고
    • Clinical and molecular genetics of Usher syndrome
    • Kimberling WJ, Möller C. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63-72.
    • (1995) J Am Acad Audiol , vol.6 , pp. 63-72
    • Kimberling, W.J.1    Möller, C.2
  • 4
    • 0028836898 scopus 로고
    • Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
    • Sankila EM, Pakarinen L, Kaariainen H, et al. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995;4:93-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 93-98
    • Sankila, E.M.1    Pakarinen, L.2    Kaariainen, H.3
  • 7
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in USH2A
    • Eudy JD, Weston MD, Yao SF, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in USH2A. Science 1998;280:1753-6.
    • (1998) Science , vol.280 , pp. 1753-1756
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.F.3
  • 8
    • 1642594004 scopus 로고    scopus 로고
    • Determination of the genomic structure of USH2A, and the identification of novel mutations causing autosomal recessive Usher syndrome type IIa
    • submitted
    • Weston MD, Eudy JD, Fujita T, et al. Determination of the genomic structure of USH2A, and the identification of novel mutations causing autosomal recessive Usher syndrome type IIa. Am J Hum Genet (submitted).
    • Am J Hum Genet
    • Weston, M.D.1    Eudy, J.D.2    Fujita, T.3
  • 9
    • 0027422082 scopus 로고
    • Genetic heterogeneity of Usher syndrome type II
    • Pieke-Dahl S, Kimberling WJ, Gorin MB, et al. Genetic heterogeneity of Usher syndrome type II. J Med Genet 1993;30:843-8.
    • (1993) J Med Genet , vol.30 , pp. 843-848
    • Pieke-Dahl, S.1    Kimberling, W.J.2    Gorin, M.B.3
  • 13
    • 0032958299 scopus 로고    scopus 로고
    • A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
    • Hmani M, Ghorbel A, Boulila-Elgaied A, et al. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet 1999;7:363-7.
    • (1999) Eur J Hum Genet , vol.7 , pp. 363-367
    • Hmani, M.1    Ghorbel, A.2    Boulila-Elgaied, A.3
  • 14
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 17
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites, Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 18
  • 19
    • 0031974523 scopus 로고    scopus 로고
    • Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions and discolored teeth
    • Innis JW, Sieving PA, McMillan P, Weatherly RA. Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions and discolored teeth. Am J Med Genet 1998;75:13-17.
    • (1998) Am J Med Genet , vol.75 , pp. 13-17
    • Innis, J.W.1    Sieving, P.A.2    McMillan, P.3    Weatherly, R.A.4
  • 20
    • 0032216552 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
    • Liu XZ, Hope C, Walsh J, et al. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 1998;63:909-12.
    • (1998) Am J Hum Genet , vol.63 , pp. 909-912
    • Liu, X.Z.1    Hope, C.2    Walsh, J.3
  • 21
    • 0029131189 scopus 로고
    • Chicken ovalbumin upstream promoter transcription factor (COUP-TF): Expression during mouse embryogenesis
    • Pereira FA, Qiu T, Tsai MJ, Tsai SY Chicken ovalbumin upstream promoter transcription factor (COUP-TF): expression during mouse embryogenesis, J Steroid Biochem Mol Biol 1995;53:503-8.
    • (1995) J Steroid Biochem Mol Biol , vol.53 , pp. 503-508
    • Pereira, F.A.1    Qiu, T.2    Tsai, M.J.3    Tsai, S.Y.4
  • 22
    • 0029165067 scopus 로고
    • Isolation, characterization, and chromosomal localization of mouse and human COUP TF-I and II genes
    • Qiu Y, Krishnan V, Zeng Z, et al. Isolation, characterization, and chromosomal localization of mouse and human COUP TF-I and II genes. Genomics 1995;29:240-6.
    • (1995) Genomics , vol.29 , pp. 240-246
    • Qiu, Y.1    Krishnan, V.2    Zeng, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.