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Page 1
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
Fanconi anemia and its diagnosis.
Auerbach AD. Auerbach AD. Mutat Res. 2009 Jul 31;668(1-2):4-10. doi: 10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. Mutat Res. 2009. PMID: 19622403 Free PMC article. Review.
Stem cell collection and gene transfer in Fanconi anemia.
Kelly PF, Radtke S, von Kalle C, Balcik B, Bohn K, Mueller R, Schuesler T, Haren M, Reeves L, Cancelas JA, Leemhuis T, Harris R, Auerbach AD, Smith FO, Davies SM, Williams DA. Kelly PF, et al. Mol Ther. 2007 Jan;15(1):211-9. doi: 10.1038/sj.mt.6300033. Mol Ther. 2007. PMID: 17164793 Free article. Clinical Trial.
Sequence variation in the Fanconi anemia gene FAA.
Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD. Levran O, et al. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051-6. doi: 10.1073/pnas.94.24.13051. Proc Natl Acad Sci U S A. 1997. PMID: 9371798 Free PMC article.
A note on competing risks in survival data analysis.
Satagopan JM, Ben-Porat L, Berwick M, Robson M, Kutler D, Auerbach AD. Satagopan JM, et al. Br J Cancer. 2004 Oct 4;91(7):1229-35. doi: 10.1038/sj.bjc.6602102. Br J Cancer. 2004. PMID: 15305188 Free PMC article. Review.
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.
Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, Henry R, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD. Berwick M, et al. Cancer Res. 2007 Oct 1;67(19):9591-6. doi: 10.1158/0008-5472.CAN-07-1501. Cancer Res. 2007. PMID: 17909071 Free PMC article.