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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: figuera 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: figuera 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
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: figuera a. 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
Transforming and tumorigenic activity of JAK2 by fusion to BCR: molecular mechanisms of action of a novel BCR-JAK2 tyrosine-kinase.
Cuesta-Domínguez Á, Ortega M, Ormazábal C, Santos-Roncero M, Galán-Díez M, Steegmann JL, Figuera Á, Arranz E, Vizmanos JL, Bueren JA, Río P, Fernández-Ruiz E. Cuesta-Domínguez Á, et al. Among authors: figuera a. PLoS One. 2012;7(2):e32451. doi: 10.1371/journal.pone.0032451. Epub 2012 Feb 27. PLoS One. 2012. PMID: 22384256 Free PMC article.
Exome sequencing reveals heterogeneous clonal dynamics in donor cell myeloid neoplasms after stem cell transplantation.
Suárez-González J, Triviño JC, Bautista G, García-Marco JA, Figuera Á, Balas A, Vicario JL, Ortuño FJ, Teruel R, María Álamo J, Carbonell D, Andrés-Zayas C, Dorado N, Rodríguez-Macías G, Kwon M, Díez-Martín JL, Martínez-Laperche C, Buño I, Spanish Group For Hematopoietic Transplantation Geth. Suárez-González J, et al. Among authors: figuera a. Haematologica. 2020 Nov 1;105(11):2655-2658. doi: 10.3324/haematol.2019.234609. Haematologica. 2020. PMID: 33131255 Free PMC article. No abstract available.
TYK2 Variants in B-Acute Lymphoblastic Leukaemia.
Turrubiartes-Martínez E, Bodega-Mayor I, Delgado-Wicke P, Molina-Jiménez F, Casique-Aguirre D, González-Andrade M, Rapado I, Camós M, Díaz-de-Heredia C, Barragán E, Ramírez-Orellana M, Aguado B, Figuera Á, Martínez-López J, Fernández-Ruiz E. Turrubiartes-Martínez E, et al. Among authors: figuera a. Genes (Basel). 2020 Nov 28;11(12):1434. doi: 10.3390/genes11121434. Genes (Basel). 2020. PMID: 33260630 Free PMC article. Clinical Trial.
71 results