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1984 1
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Page 1
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Among authors: dasi a. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.
Castella M, Pujol R, Callén E, Ramírez MJ, Casado JA, Talavera M, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Estella J, Dasí Á, Rodríguez-Villa A, Gómez P, Tapia M, Molinés A, Figuera Á, Bueren JA, Surrallés J. Castella M, et al. Among authors: dasi a. J Med Genet. 2011 Apr;48(4):242-50. doi: 10.1136/jmg.2010.084210. Epub 2011 Jan 7. J Med Genet. 2011. PMID: 21217111
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: dasi a. 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.
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: dasi a. 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.
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: dasi a. 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.
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