| 1 | BLM, BLMS
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| A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
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| Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H.
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| Mol Biol Rep 41(11):7373-80. doi: 10.1007/s11033-014-3624-5. Epub 2014 Aug 17.
2014
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| 2 | BLM, BLMS
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| Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
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| Mirzaei H, Schmidt KH.
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| Proc Natl Acad Sci U S A 109(47):19357-62. doi: 10.1073/pnas.1210304109. Epub 2012 Nov 5.
2012
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| 3 | BLM, BLMS
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| Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
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| Mirzaei H, Schmidt KH.
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| Proc Natl Acad Sci U S A 109(47):19357-62. doi: 10.1073/pnas.1210304109. Epub 2012 Nov 5.
2012
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| 4 | BLM, BLMS, FANCD2
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| The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities.
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| Naim V, Rosselli F.
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| Nat Cell Biol 11(6):761-8. Epub 2009 May 24. 2009
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| 5 | BLM, BLMS
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| Loss of Bloom syndrome protein destabilizes human gene cluster architecture.
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| Killen MW, Stults DM, Adachi N, Hanakahi L, Pierce AJ.
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| Hum Mol Genet 18(18):3417-28. Epub 2009 Jun 19.PMID: 19542097 2009
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| 6 | BLM, BLMS
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| Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
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| German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA.
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| Hum Mutat 28(8):743-53. 2007
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| 7 | BLM, BLMS
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| Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
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| Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG.
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| Nucleic Acids Res 35(18):6297-310. Epub 2007 Sep 18. 2007
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| 8 | BLM, BLMS
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| BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges.
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| Chan KL, North PS, Hickson ID.
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| EMBO J 26(14):3397-409. Epub 2007 Jun 28. 2007
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| 9 | BLM, BLMS, WRN
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| The Werner and Bloom syndrome proteins catalyze regression of a model replication fork.
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| Machwe A, Xiao L, Groden J, Orren DK.
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| Biochemistry 45(47):13939-46. 2006
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| 10 | BLM, BLMS
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| BLM heterozygosity and the risk of colorectal cancer.
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| Gruber SB, Ellis NA, Rennert G, Offit K, Scott KK, Almog R, Kolachana P, Bonner JD, Kirchhoff T, Tomsho LP, Nafa K, Pierce H, Low M, Satagopan J, Rennert H, Huang H, Greenson JK, Groden J, Rapaport B, Shia J, Johnson S, Gregersen PK, Harris CC, Boyd J.
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| Science 297(5589):2013. No abstract available. 2002
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| 11 | BLM, BLMS
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| The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in Non-Jewish Americans of Spanish ancestry.
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| Ellis NA, Ciocci S, Proytcheva M, Lennon D, Groden J, German J.
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| Am J Hum Genet 63 : 1685-1693. 1998
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| 12 | BLM, BLMS
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| Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.
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| Bahr A, De Graeve F, Kedinger C, Chatton B.
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| Oncogene 17 : 2565-2571. 1998
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| 13 | BLM, BLMS
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| Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
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| Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Gueret M.
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| Hum Mol Genet 6(9):1427-34. 1997
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| 14 | BLM, BLMS
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| Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity.
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| German J, et al.
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| Clin Genet 49 : 223-231. 1996
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| 15 | BLM, BLMS
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| Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.
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| Ellis NA, et al.
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| Am J Hum Genet 57 : 1019-1027. 1995
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| 16 | BLM, BLMS
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| Bloom syndrome : an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.
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| German J, et al.
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| Proc Natl Acad Sci U S A 91 : 6669-6673. 1994
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| 17 | BLM, BLMS
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| Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.
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| Ellis NA, et al.
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| Am J Hum Genet 55 : 453-460. 1994
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| 18 | BLM, BLMS
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| Bloom syndrome and maternal uniparental disomy for chromosome 15.
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| Woodage T, et al.
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| Am J Hum Genet 55 : 74-80. 1994
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| 19 | BLM, BLMS
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| Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15.
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| McDaniel LD, et al.
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| Proc Natl Acad Sci U S A 89 : 7968-7972. 1992
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