References

These sources were used to develop the Genetics Home Reference condition summary on Bloom syndrome.

Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8;236(1):1-12. Epub 2005 Jun 13. Review. PubMed citation
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. 2005 Dec;33(Pt 6):1456-9. Review. PubMed citation
German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat. 2007 Aug;28(8):743-53. PubMed citation
Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310. Epub 2007 Sep 18. PubMed citation
Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn. 2004 May;4(3):393-401. Review. PubMed citation
Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20):2737-42. doi: 10.1101/gad.1732808. PubMed citation
Orphanet
Ouyang KJ, Woo LL, Ellis NA. Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases. Mech Ageing Dev. 2008 Jul-Aug;129(7-8):425-40. doi: 10.1016/j.mad.2008.03.003. Epub 2008 Mar 15. Review. PubMed citation
Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999;3(2):219-21. PubMed citation
Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology. 2009 Jun;10(3):235-52. doi: 10.1007/s10522-008-9205-z. Epub 2008 Dec 15. Review. PubMed citation
Wu L. Role of the BLM helicase in replication fork management. DNA Repair (Amst). 2007 Jul 1;6(7):936-44. Epub 2007 Mar 23. Review. PubMed citation


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