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Page 1
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: cela e. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
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: cela e. 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.
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: cela e. 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
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: cela e. 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.
[T-cell pediatric acute lymphoblastic leukemia: analysis of survival and prognostic factors in 4 consecutive protocols of the Spanish cooperative study group SHOP].
Rives S, Estella J, Camós M, García-Miguel P, Verdeguer A, Couselo JM, Tasso M, Molina J, Gómez P, Fernández-Delgado R, Navajas A, Badell I; grupo cooperativo SHOP (Sociedad Española de Hemato-Oncología Pediátrica). Rives S, et al. Med Clin (Barc). 2012 Jul 7;139(4):141-9. doi: 10.1016/j.medcli.2011.12.019. Epub 2012 Mar 28. Med Clin (Barc). 2012. PMID: 22459573 Spanish.
Update of the Spanish registry of haemoglobinopathies in children and adults.
Bardón Cancho EJ, García-Morín M, Beléndez C, Velasco P, Benéitez D, Ruiz-Llobet A, Berrueco R, Argilés B, Cervera Á, Salinas JA, Vecilla C, Gondra A, Vallés G, Murciano T, Bermúdez M, Cela E; en representación del grupo de trabajo de Eritropatología de la Sociedad Española de Hematología y Oncología Pediátricas (SEHOP). Bardón Cancho EJ, et al. Among authors: cela e. Med Clin (Barc). 2020 Aug 14;155(3):95-103. doi: 10.1016/j.medcli.2019.10.011. Epub 2020 Feb 26. Med Clin (Barc). 2020. PMID: 32113697 English, Spanish.
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.
Nieto JM, Rochas-López S, González-Fernández FA, Villegas-Martínez A, Bolaños-Calderón E, Salido-Fiérrez E, Cela E, Huerta-Aragoneses J, Ordoñez-García M, Muruzábal-Sitges MJ, Abio-Calvete M, Sevilla Navarro J, de la Iglesia S, Morado M, San Román-Pacheco S, Martín-Mateos ML, Recasens-Flores MV, Benavente-Cuesta C, Ropero-Gradilla P, Members Of The Erithropatology Working Group. Nieto JM, et al. Among authors: cela e. Clin Chim Acta. 2022 Jun 1;531:112-119. doi: 10.1016/j.cca.2022.03.024. Epub 2022 Mar 26. Clin Chim Acta. 2022. PMID: 35351432
Correction to: Spanish registry of hemoglobinopathies and rare anemias (REHem- AR): demographics, complications, and management of patients with β-thalassemia.
Bardón-Cancho EJ, Marco-Sánchez JM, Benéitez-Pastor D, Payán-Pernía S, Llobet AR, Berrueco R, García-Morin M, Beléndez C, Senent L, Acosta MJO, Pleguezuelos IP, Velasco P, Collado A, Moreno-Carbonell M, Argilés B, de Soto IP, Del Mar Bermúdez M, Salido Fiérrez EJ, Blanco-Álvarez A, Navarro PG, Cela E. Bardón-Cancho EJ, et al. Among authors: cela e. Ann Hematol. 2024 Aug;103(8):3283-3284. doi: 10.1007/s00277-024-05838-1. Ann Hematol. 2024. PMID: 38902376 Free PMC article. No abstract available.
National registry of hemoglobinopathies in Spain (REPHem).
Cela E, Bellón JM, de la Cruz M, Beléndez C, Berrueco R, Ruiz A, Elorza I, Díaz de Heredia C, Cervera A, Vallés G, Salinas JA, Coll MT, Bermúdez M, Prudencio M, Argilés B, Vecilla C; SEHOP-Hemoglobinopathies Study Group (Sociedad Española de Hematología y Oncología Pediátricas). Cela E, et al. Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26322. Epub 2016 Nov 2. Pediatr Blood Cancer. 2017. PMID: 27804209
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