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Kseroderma Pigmentozum

Year 2004, Volume: 2 Issue: 3, 0 - 0, 01.09.2004

Abstract

Transkripsiyon, replikasyon gibi temel biyolojik olayların DNA tamiri ile sıkı bir ilişki içerisinde olduğu ortaya konmuştur. DNA tamir yollarındaki hasarlar, DNA hasarına neden olan ajanlara karşı duyarlılık gösteren genetik hastalıkların moleküler temelinin anlaşılmasını sağlamaktadır

References

  • 1. Cleaver JE. Defective repair replication of DNA in Kseroderma pigmentozum. Nature 1968; 218: 652-56.
  • 2. Cleaver JE. Kseroderma pigmentozum: variants with normal DNA repair and normal sensitivity to UV light. J Invest Dermatol 1972; 58: 124 -8.
  • 3. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987 ; 123: 241-50
  • 4. Wood RD. Seven genes for three diseases. Nature 1991; 350: 190.
  • 5. Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Kseroderma pigmentozum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001; 5:225-42.
  • 6. Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Kseroderma pigmentozum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet 1992; 50: 677 - 89.
  • 7. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH and Robbins JH. Cockayne syndrome and kseroderma pigmentozum. Neurology 2000; 55: 1442-9.
  • 8. Moriwaki S, Kraemer KH. Kseroderma pigmentozum--bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed. 2001; 17:47-54.
  • 9. Goldstein B, Khilnani P, Lapey A, Cleaver JE, Rhodes AR. Combined immunodeficiency associated with kseroderma pigmentozum. Pediatr Dermatol 1990 ; 7:132-5.
  • 10. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency associated with DNA repair defects. Clin Exp Immunol. 2000 ;121:1-7.
  • 11. Kraemer KH, DiGiovanna JJ, Moshell AN, et al: Prevention of skin cancer in kseroderma pigmentozum with the use of oral isotretinoin. N Engl J Med 1988; 318: 1633-7.
Year 2004, Volume: 2 Issue: 3, 0 - 0, 01.09.2004

Abstract

References

  • 1. Cleaver JE. Defective repair replication of DNA in Kseroderma pigmentozum. Nature 1968; 218: 652-56.
  • 2. Cleaver JE. Kseroderma pigmentozum: variants with normal DNA repair and normal sensitivity to UV light. J Invest Dermatol 1972; 58: 124 -8.
  • 3. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987 ; 123: 241-50
  • 4. Wood RD. Seven genes for three diseases. Nature 1991; 350: 190.
  • 5. Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Kseroderma pigmentozum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001; 5:225-42.
  • 6. Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Kseroderma pigmentozum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet 1992; 50: 677 - 89.
  • 7. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH and Robbins JH. Cockayne syndrome and kseroderma pigmentozum. Neurology 2000; 55: 1442-9.
  • 8. Moriwaki S, Kraemer KH. Kseroderma pigmentozum--bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed. 2001; 17:47-54.
  • 9. Goldstein B, Khilnani P, Lapey A, Cleaver JE, Rhodes AR. Combined immunodeficiency associated with kseroderma pigmentozum. Pediatr Dermatol 1990 ; 7:132-5.
  • 10. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency associated with DNA repair defects. Clin Exp Immunol. 2000 ;121:1-7.
  • 11. Kraemer KH, DiGiovanna JJ, Moshell AN, et al: Prevention of skin cancer in kseroderma pigmentozum with the use of oral isotretinoin. N Engl J Med 1988; 318: 1633-7.
There are 11 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Sara Şebnem Kılıç This is me

Publication Date September 1, 2004
Published in Issue Year 2004 Volume: 2 Issue: 3

Cite

APA Kılıç, S. Ş. (2004). Kseroderma Pigmentozum. Güncel Pediatri, 2(3).
AMA Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. September 2004;2(3).
Chicago Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri 2, no. 3 (September 2004).
EndNote Kılıç SŞ (September 1, 2004) Kseroderma Pigmentozum. Güncel Pediatri 2 3
IEEE S. Ş. Kılıç, “Kseroderma Pigmentozum”, Güncel Pediatri, vol. 2, no. 3, 2004.
ISNAD Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri 2/3 (September 2004).
JAMA Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. 2004;2.
MLA Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri, vol. 2, no. 3, 2004.
Vancouver Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. 2004;2(3).