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Volumn 130, Issue 1 I, 2003, Pages 31-36

A whole family affected by xeroderma pigmentosum: Clinical and genetic particularities;Xeroderma pigmentosum: Particularités cliniques et génétiques d'une famille dont tous les membres sont atteints

Author keywords

[No Author keywords available]

Indexed keywords

ETRETINATE; RETINOID;

EID: 17144468451     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (14)
  • 1
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    • Xeroderma pigmentosum and related disorders: Defects in DNA repair and transcription
    • Berneburg M, Lehmann AR. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. Adv Genet 2001;43: 71-102.
    • (2001) Adv Genet , vol.43 , pp. 71-102
    • Berneburg, M.1    Lehmann, A.R.2
  • 2
    • 0014421995 scopus 로고
    • Defective repair replication of DNA in xeroderma pigmentosum
    • Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 1968;218:652.
    • (1968) Nature , vol.218 , pp. 652
    • Cleaver, J.E.1
  • 4
    • 0017360241 scopus 로고
    • The xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases
    • Takebe H, Miki Y, Kozuka T, Furuyama JI, Tanaka K. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Cancer Res 1977;37:490-5.
    • (1977) Cancer Res , vol.37 , pp. 490-495
    • Takebe, H.1    Miki, Y.2    Kozuka, T.3    Furuyama, J.I.4    Tanaka, K.5
  • 5
    • 0017087285 scopus 로고
    • Colony-forming ability of ultraviolet-irradiated xeroderma pigmentosum fibroblasts from different DNA repair complementation groups
    • Kraemer KH, Andrews AD, Barrett SF, Robbins JH. Colony-forming ability of ultraviolet-irradiated xeroderma pigmentosum fibroblasts from different DNA repair complementation groups. Biochim Biophys Acta 1976;442:147-53.
    • (1976) Biochim Biophys Acta , vol.442 , pp. 147-153
    • Kraemer, K.H.1    Andrews, A.D.2    Barrett, S.F.3    Robbins, J.H.4
  • 7
    • 0024463246 scopus 로고
    • Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: A review of cases from Japan
    • Yamamura K. Ichihashi M, Hiramoto T, Ogoshi M, Nishioka K, Fujiwara Y. Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan. Br J Dermatol 1989;121:471-80.
    • (1989) Br J Dermatol , vol.121 , pp. 471-480
    • Yamamura, K.1    Ichihashi, M.2    Hiramoto, T.3    Ogoshi, M.4    Nishioka, K.5    Fujiwara, Y.6
  • 8
    • 0023544341 scopus 로고
    • Genetics and skin cancer of xeroderma pigmentosum in Japan
    • Takebe H, Nishigori C, Satoh Y. Genetics and skin cancer of xeroderma pigmentosum in Japan. Jpn Cancer Res 1987;78:135-43.
    • (1987) Jpn Cancer Res , vol.78 , pp. 135-143
    • Takebe, H.1    Nishigori, C.2    Satoh, Y.3
  • 9
    • 0024324508 scopus 로고
    • Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F
    • Kondo S, Mamada A, Miyamoto C, Keong CH, Satoh Y, Fujiwara Y. Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F. Photodermatol 1989;6:89-95.
    • (1989) Photodermatol , vol.6 , pp. 89-95
    • Kondo, S.1    Mamada, A.2    Miyamoto, C.3    Keong, C.H.4    Satoh, Y.5    Fujiwara, Y.6
  • 11
    • 0026607833 scopus 로고
    • Xeroderma pigmentosum variant associated with multiple skin cancers and lung cancer
    • Mamada A, Miura K, Tsunoda K, Hirose I, Furuya M, Kondo S. Xeroderma pigmentosum variant associated with multiple skin cancers and lung cancer. Dermatology 1992;184:177-81.
    • (1992) Dermatology , vol.184 , pp. 177-181
    • Mamada, A.1    Miura, K.2    Tsunoda, K.3    Hirose, I.4    Furuya, M.5    Kondo, S.6
  • 12
    • 0032774468 scopus 로고    scopus 로고
    • Cancer protection in xeroderma pigmentosum variant (XP-V)
    • Somos S, Farkas B, Schneider I. Cancer protection in xeroderma pigmentosum variant (XP-V). Anticancer Res 1999;19 (3B): 2195-9.
    • (1999) Anticancer Res , vol.19 , Issue.3 B , pp. 2195-2199
    • Somos, S.1    Farkas, B.2    Schneider, I.3
  • 13
    • 0031832670 scopus 로고
    • Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms
    • Matsumura Y, Nishigori C, Yagi T, Imamura S, Takebe H. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum Mol Genet 1988;7:969-74.
    • (1988) Hum Mol Genet , vol.7 , pp. 969-974
    • Matsumura, Y.1    Nishigori, C.2    Yagi, T.3    Imamura, S.4    Takebe, H.5
  • 14
    • 0031924308 scopus 로고    scopus 로고
    • Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease
    • Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NG, Kleijer WJ. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol 1998;110:832-6.
    • (1998) J Invest Dermatol , vol.110 , pp. 832-836
    • Sijbers, A.M.1    Van Voorst Vader, P.C.2    Snoek, J.W.3    Raams, A.4    Jaspers, N.G.5    Kleijer, W.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.