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Page 1
Platelet transcriptome analysis in patients with germline RUNX1 mutations.
Palma-Barqueros V, Bastida JM, López Andreo MJ, Zámora-Cánovas A, Zaninetti C, Ruiz-Pividal JF, Bohdan N, Padilla J, Teruel-Montoya R, Marín-Quilez A, Revilla N, Sánchez-Fuentes A, Rodriguez-Alen A, Benito R, Vicente V, Iturbe T, Greinacher A, Lozano ML, Rivera J; Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC); Spanish Society of Thrombosis and Haemostasis (SETH). Palma-Barqueros V, et al. J Thromb Haemost. 2023 May;21(5):1352-1365. doi: 10.1016/j.jtha.2023.01.023. Epub 2023 Feb 1. J Thromb Haemost. 2023. PMID: 36736831 Free article.
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B. Bastida JM, et al. Among authors: palma barqueros v. Cells. 2022 Oct 14;11(20):3223. doi: 10.3390/cells11203223. Cells. 2022. PMID: 36291092 Free PMC article.
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.
Palma-Barqueros V, Revilla N, Zaninetti C, Galera AM, Sánchez-Fuentes A, Zámora-Cánovas A, Bohdan N, Padilla J, Marín-Quilez A, Rodriguez-Alen A, Fuster JL, Greinacher A, Vicente V, Bastida JM, Rivera J, Lozano ML. Palma-Barqueros V, et al. Blood Adv. 2022 Sep 13;6(17):5244-5255. doi: 10.1182/bloodadvances.2021005446. Blood Adv. 2022. PMID: 35349645 Free PMC article.
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
Marín-Quílez A, Vuelta E, Díaz-Ajenjo L, Fernández-Infante C, García-Tuñón I, Benito R, Palma-Barqueros V, Hernández-Rivas JM, González-Porras JR, Rivera J, Bastida JM. Marín-Quílez A, et al. Among authors: palma barqueros v. J Thromb Haemost. 2022 May;20(5):1248-1255. doi: 10.1111/jth.15672. Epub 2022 Feb 28. J Thromb Haemost. 2022. PMID: 35170221 Free PMC article.
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Palma-Barqueros V, Bury L, Kunishima S, Lozano ML, Rodríguez-Alen A, Revilla N, Bohdan N, Padilla J, Fernández-Pérez MP, de la Morena-Barrio ME, Marín-Quilez A, Benito R, López-Fernández MF, Marcellini S, Zamora-Cánovas A, Vicente V, Martínez C, Gresele P, Bastida JM, Rivera J. Palma-Barqueros V, et al. Blood Adv. 2021 Dec 28;5(24):5453-5467. doi: 10.1182/bloodadvances.2020004057. Blood Adv. 2021. PMID: 34516618 Free PMC article.
Inherited Platelet Disorders: An Updated Overview.
Palma-Barqueros V, Revilla N, Sánchez A, Zamora Cánovas A, Rodriguez-Alén A, Marín-Quílez A, González-Porras JR, Vicente V, Lozano ML, Bastida JM, Rivera J. Palma-Barqueros V, et al. Int J Mol Sci. 2021 Apr 26;22(9):4521. doi: 10.3390/ijms22094521. Int J Mol Sci. 2021. PMID: 33926054 Free PMC article. Review.
Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.
Marín-Quílez A, García-Tuñón I, Fernández-Infante C, Hernández-Cano L, Palma-Barqueros V, Vuelta E, Sánchez-Martín M, González-Porras JR, Guerrero C, Benito R, Rivera J, Hernández-Rivas JM, Bastida JM. Marín-Quílez A, et al. Among authors: palma barqueros v. Thromb Haemost. 2021 Sep;121(9):1193-1205. doi: 10.1055/s-0041-1723987. Epub 2021 Feb 18. Thromb Haemost. 2021. PMID: 33626581
A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.
Palma-Barqueros V, Crescente M, de la Morena ME, Chan MV, Almarza E, Revilla N, Bohdan N, Miñano A, Padilla J, Allan HE, Maffucci T, Edin ML, Zeldin DC, Mesa-Nuñez C, Damian C, Marín-Quilez A, Benito R, Martínez-Martínez I, Bermejo N, Casas-Aviles I, Rodríguez-Alen A, González-Porras JR, Hernández-Rivas JM, Vicente V, Corral J, Lozano ML, Warner TD, Bastida JM, Rivera J. Palma-Barqueros V, et al. Am J Hematol. 2021 Mar 1;96(3):E83-E88. doi: 10.1002/ajh.26076. Epub 2021 Jan 5. Am J Hematol. 2021. PMID: 33326144 Free PMC article. No abstract available.
18 results