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Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
Knies K, Inano S, Ramírez MJ, Ishiai M, Surrallés J, Takata M, Schindler D. Knies K, et al. Among authors: schindler d. J Clin Invest. 2017 Aug 1;127(8):3013-3027. doi: 10.1172/JCI92069. Epub 2017 Jul 10. J Clin Invest. 2017. PMID: 28691929 Free PMC article.
Exploring the role of oxygen in Fanconi's anemia.
Liebetrau W, Rünge TM, Baumer A, Henning C, Gross O, Schindler D, Poot M, Hoehn H. Liebetrau W, et al. Among authors: schindler d. Recent Results Cancer Res. 1997;143:353-67. doi: 10.1007/978-3-642-60393-8_25. Recent Results Cancer Res. 1997. PMID: 8912432 Review. No abstract available.
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.
Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J. Callén E, et al. Among authors: schindler d. Blood. 2005 Mar 1;105(5):1946-9. doi: 10.1182/blood-2004-07-2588. Epub 2004 Nov 2. Blood. 2005. PMID: 15522956 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: schindler d. 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: schindler d. 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.
524 results