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Volumn 134, Issue 6, 1996, Pages 1147-1150

Clinical characteristics of three patients with UVS syndrome, a photosensitive disorder with defective DNA repair

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; DNA REPAIR; FAMILIAL DISEASE; FEMALE; HUMAN; MALE; PHOTOSENSITIVITY; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0029999822     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.1996.tb07963.x     Document Type: Article
Times cited : (19)

References (13)
  • 1
    • 0000723144 scopus 로고
    • Xeroderma pigmentosum
    • (Scriver CR, Beadet AL, Sly WS, Valle D, eds), 6th edn. New York: McGraw-Hill
    • Cleaver JE, Kraemer KH. Xeroderma pigmentosum. In: The Metabolic Basis of Inherited Disease (Scriver CR, Beadet AL, Sly WS, Valle D, eds), 6th edn. Vol. 2. New York: McGraw-Hill. 1989; 2949-71.
    • (1989) The Metabolic Basis of Inherited Disease , vol.2 , pp. 2949-2971
    • Cleaver, J.E.1    Kraemer, K.H.2
  • 2
    • 0000242262 scopus 로고
    • Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation
    • Lehmann AR, Kirk-Bell S, Arlett CF et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci USA 1975; 72: 219-23.
    • (1975) Proc Natl Acad Sci USA , vol.72 , pp. 219-223
    • Lehmann, A.R.1    Kirk-Bell, S.2    Arlett, C.F.3
  • 3
    • 0023555206 scopus 로고
    • Cockayne's syndrome and trichothiodystrophy: Defective repair without cancer
    • Lehmann AR. Cockayne's syndrome and trichothiodystrophy: defective repair without cancer. Cancer Rev 1987; 7: 82-103.
    • (1987) Cancer Rev , vol.7 , pp. 82-103
    • Lehmann, A.R.1
  • 4
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68-84.
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 5
    • 0015982924 scopus 로고
    • Xeroderma pigmentosum: An inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair
    • Robbins JH, Kraemer KH, Lutzner MA et al. Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Intern Med 1974; 80: 221-48.
    • (1974) Ann Intern Med , vol.80 , pp. 221-248
    • Robbins, J.H.1    Kraemer, K.H.2    Lutzner, M.A.3
  • 6
    • 0026410119 scopus 로고
    • Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D
    • Robbins JH. Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D. Hum Genet 1991; 88: 242.
    • (1991) Hum Genet , vol.88 , pp. 242
    • Robbins, J.H.1
  • 7
    • 0027360041 scopus 로고
    • Xeroderma pigmentosum complementation group G associated Cockayne syndrome
    • Vermeulen W, Jaeken J, Jaspers NGJ et al. Xeroderma pigmentosum complementation group G associated Cockayne syndrome. Am J Hum Genet 1993; 53: 185-92.
    • (1993) Am J Hum Genet , vol.53 , pp. 185-192
    • Vermeulen, W.1    Jaeken, J.2    Jaspers, N.G.J.3
  • 8
    • 0020066520 scopus 로고
    • Failure of RNA synthesis to recover after UV irradiation: An early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum
    • Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res 1982; 42: 1473-8.
    • (1982) Cancer Res , vol.42 , pp. 1473-1478
    • Mayne, L.V.1    Lehmann, A.R.2
  • 9
    • 0025341294 scopus 로고
    • The genetic defect in Cockayne's syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA
    • Venema J, Mullenders LHF, Natarajan AT et al. The genetic defect in Cockayne's syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 1990; 87: 4707-11.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 4707-4711
    • Venema, J.1    Mullenders, L.H.F.2    Natarajan, A.T.3
  • 10
    • 0028988703 scopus 로고
    • S syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group 1
    • S syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group 1. Am J Hum Genet 1995; 56: 1267-76.
    • (1995) Am J Hum Genet , vol.56 , pp. 1267-1276
    • Itoh, T.1    Fujiwara, Y.2    Ono, T.3    Yamaizumi, M.4
  • 11
    • 0028297861 scopus 로고
    • A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome without typical clinical manifestations
    • Itoh T, Ono T, Yamaizumi M. A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome without typical clinical manifestations. Mutation Res 1994; 314: 233-48.
    • (1994) Mutation Res , vol.314 , pp. 233-248
    • Itoh, T.1    Ono, T.2    Yamaizumi, M.3
  • 12
    • 0019580195 scopus 로고
    • A photosensitive disease with a defect in the recovery of DNA synthesis after UV irradiation
    • Ichihashi M, Fujiwara Y. A photosensitive disease with a defect in the recovery of DNA synthesis after UV irradiation. Jpn J Dermatol 1981; 91: 751-7.
    • (1981) Jpn J Dermatol , vol.91 , pp. 751-757
    • Ichihashi, M.1    Fujiwara, Y.2
  • 13
    • 0019857509 scopus 로고
    • A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation
    • Fujiwara Y, Ichihashi M, Kano Y et al. A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Dermatol 1981; 77: 256-63.
    • (1981) J Invest Dermatol , vol.77 , pp. 256-263
    • Fujiwara, Y.1    Ichihashi, M.2    Kano, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.