BibTex RIS Kaynak Göster

Kseroderma Pigmentozum

Yıl 2004, Cilt: 2 Sayı: 3, 0 - 0, 01.09.2004

Öz

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

Kaynakça

  • 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.
Yıl 2004, Cilt: 2 Sayı: 3, 0 - 0, 01.09.2004

Öz

Kaynakça

  • 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.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Research Article
Yazarlar

Sara Şebnem Kılıç Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2004
Yayımlandığı Sayı Yıl 2004 Cilt: 2 Sayı: 3

Kaynak Göster

APA Kılıç, S. Ş. (2004). Kseroderma Pigmentozum. Güncel Pediatri, 2(3).
AMA Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. Eylül 2004;2(3).
Chicago Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri 2, sy. 3 (Eylül 2004).
EndNote Kılıç SŞ (01 Eylül 2004) Kseroderma Pigmentozum. Güncel Pediatri 2 3
IEEE S. Ş. Kılıç, “Kseroderma Pigmentozum”, Güncel Pediatri, c. 2, sy. 3, 2004.
ISNAD Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri 2/3 (Eylül 2004).
JAMA Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. 2004;2.
MLA Kılıç, Sara Şebnem. “Kseroderma Pigmentozum”. Güncel Pediatri, c. 2, sy. 3, 2004.
Vancouver Kılıç SŞ. Kseroderma Pigmentozum. Güncel Pediatri. 2004;2(3).