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Page 1
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: bastida jm. Blood Adv. 2022 Sep 13;6(17):5244-5255. doi: 10.1182/bloodadvances.2021005446. Blood Adv. 2022. PMID: 35349645 Free PMC article.
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML, Cook A, Bastida JM, Paul DS, Iruin G, Cid AR, Adan-Pedroso R, Ramón González-Porras J, Hernández-Rivas JM, Fletcher SJ, Johnson B, Morgan N, Ferrer-Marin F, Vicente V, Sondek J, Watson SP, Bergmeier W, Rivera J. Lozano ML, et al. Among authors: bastida jm. Blood. 2016 Sep 1;128(9):1282-9. doi: 10.1182/blood-2015-11-683102. Epub 2016 May 27. Blood. 2016. PMID: 27235135 Free PMC article. Clinical Trial.
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.
Bastida JM, Del Rey M, Revilla N, Benito R, Perez-Andrés M, González B, Riesco S, Janusz K, Padilla J, Hortal Benito-Sendin A, Bueno D, Blanco E, Hernández-Rivas M, Vicente V, Rivera J, González-Porras R, Lozano ML. Bastida JM, et al. Platelets. 2017 Jun;28(4):417-420. doi: 10.1080/09537104.2016.1246715. Epub 2016 Nov 25. Platelets. 2017. PMID: 27885891
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Sevivas T, Bastida JM, Paul DS, Caparros E, Palma-Barqueros V, Coucelo M, Marques D, Ferrer-Marín F, González-Porras JR, Vicente V, Hernández-Rivas JM, Watson SP, Lozano ML, Bergmeier W, Rivera J. Sevivas T, et al. Among authors: bastida jm. Platelets. 2018 Mar;29(2):192-195. doi: 10.1080/09537104.2017.1336214. Epub 2017 Aug 1. Platelets. 2018. PMID: 28762304 Free PMC article.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM, Morais S, Palma-Barqueros V, Benito R, Bermejo N, Karkucak M, Trapero-Marugan M, Bohdan N, Pereira M, Marin-Quilez A, Oliveira J, Yucel Y, Santos R, Padilla J, Janusz K, Lau C, Martin-Izquierdo M, Couto E, Francisco Ruiz-Pividal J, Vicente V, Hernández-Rivas JM, González-Porras JR, Luisa Lozano M, Lima M, Rivera J. Bastida JM, et al. Ann Med. 2019 Mar;51(2):141-148. doi: 10.1080/07853890.2019.1587498. Epub 2019 Apr 16. Ann Med. 2019. PMID: 30990103 Free PMC article.
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida JM, Benito R, Lozano ML, Marín-Quilez A, Janusz K, Martín-Izquierdo M, Hernández-Sánchez J, Palma-Barqueros V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Semin Thromb Hemost. 2019 Oct;45(7):695-707. doi: 10.1055/s-0039-1687889. Epub 2019 Apr 30. Semin Thromb Hemost. 2019. PMID: 31041795 Review.
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
Lamolda M, Montes R, Simón I, Perales S, Martínez-Navajas G, Lopez-Onieva L, Ríos-Pelegrina R, Del Moral RG, Griñan-Lison C, Marchal JA, Lozano ML, Ramos-Mejia V, Rivera J, Bastida JM, Real PJ. Lamolda M, et al. Among authors: bastida jm. Stem Cell Res. 2019 Dec;41:101603. doi: 10.1016/j.scr.2019.101603. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31698193 Free article.
65 results