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Mutations of the SLX4 gene in Fanconi anemia.
Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Kim Y, et al. Among authors: hanenberg h. Nat Genet. 2011 Feb;43(2):142-6. doi: 10.1038/ng.750. Epub 2011 Jan 16. Nat Genet. 2011. PMID: 21240275 Free PMC article.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. Levran O, et al. Among authors: hanenberg h. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT. Sims AE, et al. Among authors: hanenberg h. Nat Struct Mol Biol. 2007 Jun;14(6):564-7. doi: 10.1038/nsmb1252. Epub 2007 Apr 25. Nat Struct Mol Biol. 2007. PMID: 17460694
A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H, Auerbach AD. Kutler DI, et al. Among authors: hanenberg h. Blood. 2003 Feb 15;101(4):1249-56. doi: 10.1182/blood-2002-07-2170. Epub 2002 Sep 26. Blood. 2003. PMID: 12393516 Free article.
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Offit K, et al. Among authors: hanenberg h. J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51. doi: 10.1093/jnci/djg072. J Natl Cancer Inst. 2003. PMID: 14559878
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. Among authors: hanenberg h. 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.
196 results