DNA repair disorders (original) (raw)

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Selected References

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  1. BLOOM D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis Child. 1954 Dec;88(6):754–758. [PubMed] [Google Scholar]
  2. Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser. 1975;11(1):255–270. [PubMed] [Google Scholar]
  3. Cleaver J. E. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968 May 18;218(5142):652–656. doi: 10.1038/218652a0. [DOI] [PubMed] [Google Scholar]
  4. D'Andrea A. D. Fanconi anaemia forges a novel pathway. Nat Genet. 1996 Nov;14(3):240–242. doi: 10.1038/ng1196-240. [DOI] [PubMed] [Google Scholar]
  5. Ellis N. A., German J. Molecular genetics of Bloom's syndrome. Hum Mol Genet. 1996;5(Spec No):1457–1463. doi: 10.1093/hmg/5.supplement_1.1457. [DOI] [PubMed] [Google Scholar]
  6. Gatti R. A., Berkel I., Boder E., Braedt G., Charmley P., Concannon P., Ersoy F., Foroud T., Jaspers N. G., Lange K. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988 Dec 8;336(6199):577–580. doi: 10.1038/336577a0. [DOI] [PubMed] [Google Scholar]
  7. Kraemer K. H., Lee M. M., Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol. 1987 Feb;123(2):241–250. doi: 10.1001/archderm.123.2.241. [DOI] [PubMed] [Google Scholar]
  8. Lindahl T., Nyberg B. Rate of depurination of native deoxyribonucleic acid. Biochemistry. 1972 Sep 12;11(19):3610–3618. doi: 10.1021/bi00769a018. [DOI] [PubMed] [Google Scholar]
  9. Lynch H. T., Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996 Sep 15;78(6):1149–1167. doi: 10.1002/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5. [DOI] [PubMed] [Google Scholar]
  10. Nance M. A., Berry S. A. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992 Jan 1;42(1):68–84. doi: 10.1002/ajmg.1320420115. [DOI] [PubMed] [Google Scholar]
  11. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D. A., Smith S., Uziel T., Sfez S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995 Jun 23;268(5218):1749–1753. doi: 10.1126/science.7792600. [DOI] [PubMed] [Google Scholar]
  12. Strathdee C. A., Gavish H., Shannon W. R., Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 1992 Apr 30;356(6372):763–767. doi: 10.1038/356763a0. [DOI] [PubMed] [Google Scholar]
  13. Svejstrup J. Q., Wang Z., Feaver W. J., Wu X., Bushnell D. A., Donahue T. F., Friedberg E. C., Kornberg R. D. Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome. Cell. 1995 Jan 13;80(1):21–28. doi: 10.1016/0092-8674(95)90447-6. [DOI] [PubMed] [Google Scholar]
  14. Woods C. G., Taylor A. M. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. 1992 Feb;82(298):169–179. [PubMed] [Google Scholar]