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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: munoz 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.
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: munoz 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: munoz 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 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: munoz 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.
Long-term results of two consecutive trials in childhood acute lymphoblastic leukaemia performed by the Spanish Cooperative Group for Childhood Acute Lymphoblastic Leukemia Group (SHOP) from 1989 to 1998.
Badell I, Muñoz A, Estella J, Fernández-Delgado R, Javier G, Verdeguer A, Cubells J; SHOP Leukemia and Lymphoma Studies Committee (Spanish Societies of Pediatric Hematology and Pediatric Oncology). Badell I, et al. Among authors: munoz a. Clin Transl Oncol. 2008 Feb;10(2):117-24. doi: 10.1007/s12094-008-0165-1. Clin Transl Oncol. 2008. PMID: 18258511 Clinical Trial.
Long-term effectiveness and tolerability of dolutegravir/lamivudine in treatment-naive people with HIV: an analysis of a multicentre cohort at 96 weeks.
Suárez-García I, Alejos B, Moreno C, Martín Torres J, Masiá M, García-Fraile LJ, Riera M, Dalmau D, Rodríguez-Rosado R, Muga R, Moreno S, Jarrín I; CoRIS cohort. Suárez-García I, et al. J Antimicrob Chemother. 2024 Dec 23:dkae456. doi: 10.1093/jac/dkae456. Online ahead of print. J Antimicrob Chemother. 2024. PMID: 39710424
Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.
Kawaguchi A, Fernandez A, Baudin F, Chiusolo F, Lee JH, Brierley J, Colleti J Jr, Reiter K, Won Kim K, Lopez Fernandez Y, Kneyber M, Pons-Òdena M, Napolitano N, Graham RJ, Kawasaki T, Garros D, Garcia Guerra G, Jouvet P; LongVentKids study group. Kawaguchi A, et al. Lancet Child Adolesc Health. 2025 Jan;9(1):37-46. doi: 10.1016/S2352-4642(24)00296-7. Lancet Child Adolesc Health. 2025. PMID: 39701660
2,652 results