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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM. Marín-Quílez A, et al. Among authors: miguel garcia c. Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995. Blood. 2023. PMID: 36395340 Free PMC article.
TRAF3 alterations are frequent in del-3'IGH chronic lymphocytic leukemia patients and define a specific subgroup with adverse clinical features.
Pérez-Carretero C, Hernández-Sánchez M, González T, Quijada-Álamo M, Martín-Izquierdo M, Santos-Mínguez S, Miguel-García C, Vidal MJ, García-De-Coca A, Galende J, Pardal E, Aguilar C, Vargas-Pabón M, Dávila J, Gascón-Y-Marín I, Hernández-Rivas JÁ, Benito R, Hernández-Rivas JM, Rodríguez-Vicente AE. Pérez-Carretero C, et al. Among authors: miguel garcia c. Am J Hematol. 2022 Jul;97(7):903-914. doi: 10.1002/ajh.26578. Epub 2022 May 9. Am J Hematol. 2022. PMID: 35472012 Free article.
Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia.
Martín-Izquierdo M, Abáigar M, Hernández-Sánchez JM, Tamborero D, López-Cadenas F, Ramos F, Lumbreras E, Madinaveitia-Ochoa A, Megido M, Labrador J, Sánchez-Real J, Olivier C, Dávila J, Aguilar C, Rodríguez JN, Martín-Nuñez G, Santos-Mínguez S, Miguel-García C, Benito R, Díez-Campelo M, Hernández-Rivas JM. Martín-Izquierdo M, et al. Among authors: miguel garcia c. Haematologica. 2021 Aug 1;106(8):2215-2223. doi: 10.3324/haematol.2020.248807. Haematologica. 2021. PMID: 32675227 Free PMC article.
18 results