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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.
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
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.
Antonio Casado J, Callén E, Jacome A, Río P, Castella M, Lobitz S, Ferro T, Muñoz A, Sevilla J, Cantalejo A, Cela E, Cervera J, Sánchez-Calero J, Badell I, Estella J, Dasí A, Olivé T, José Ortega J, Rodriguez-Villa A, Tapia M, Molinés A, Madero L, Segovia JC, Neveling K, Kalb R, Schindler D, Hanenberg H, Surrallés J, Bueren JA. Antonio Casado J, et al. Among authors: hanenberg h. J Med Genet. 2007 Apr;44(4):241-9. doi: 10.1136/jmg.2006.044719. Epub 2006 Nov 14. J Med Genet. 2007. PMID: 17105750 Free PMC article.
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.
198 results