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Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, Schindler D, Hanenberg H, Schaal H. Hartmann L, et al. Among authors: auerbach ad. Am J Hum Genet. 2010 Oct 8;87(4):480-93. doi: 10.1016/j.ajhg.2010.08.016. Am J Hum Genet. 2010. PMID: 20869034 Free PMC article.
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: auerbach ad. 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: auerbach ad. J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51. doi: 10.1093/jnci/djg072. J Natl Cancer Inst. 2003. PMID: 14559878
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: auerbach ad. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
327 results