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Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Zamora-Cánovas A, de la Morena-Barrio B, Marín-Quilez A, Sierra-Aisa C, Male C, Fernández-Mosteirin N, Trapero-Marugán M, Padilla J, Garrido-Rodriguez P, Sánchez-Fuentes A, Rodríguez-Alen A, Gómez-González PL, Revilla N, de la Morena-Barrio ME, Bastida JM, Corral J, Rivera J, Lozano ML. Zamora-Cánovas A, et al. J Thromb Haemost. 2024 Mar;22(3):851-859. doi: 10.1016/j.jtha.2023.11.007. Epub 2023 Nov 24. J Thromb Haemost. 2024. PMID: 38007062
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Marín-Quílez A, Díaz-Ajenjo L, Di Buduo CA, Zamora-Cánovas A, Lozano ML, Benito R, González-Porras JR, Balduini A, Rivera J, Bastida JM. Marín-Quílez A, et al. Among authors: zamora canovas a. Int J Mol Sci. 2023 Mar 7;24(6):5109. doi: 10.3390/ijms24065109. Int J Mol Sci. 2023. PMID: 36982178 Free PMC article. Review.
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. Among authors: zamora canovas a. 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.
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. Among authors: zamora canovas a. Blood Adv. 2022 Sep 13;6(17):5244-5255. doi: 10.1182/bloodadvances.2021005446. Blood Adv. 2022. PMID: 35349645 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. Among authors: zamora canovas a. 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. Among authors: zamora canovas a. 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.