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68 results

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Page 1
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: bastida jm. 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.
Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM, Del Rey M, Lozano ML, Sarasquete ME, Benito R, Fontecha ME, Fisac R, García-Frade LJ, Aguilar C, Martínez MP, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa MR, Martin-Antorán JM, Silvestre LA, Cebeira MJ, Bermejo N, Riesco S, Mendoza MC, García-Sanz R, González-Díaz M, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Haemophilia. 2016 Jul;22(4):590-7. doi: 10.1111/hae.12908. Epub 2016 Feb 15. Haemophilia. 2016. PMID: 26879396
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.
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Bastida JM, González-Porras JR, Jiménez C, Benito R, Ordoñez GR, Álvarez-Román MT, Fontecha ME, Janusz K, Castillo D, Fisac RM, García-Frade LJ, Aguilar C, Martínez MP, Bermejo N, Herrero S, Balanzategui A, Martin-Antorán JM, Ramos R, Cebeiro MJ, Pardal E, Aguilera C, Pérez-Gutierrez B, Prieto M, Riesco S, Mendoza MC, Benito A, Hortal Benito-Sendin A, Jiménez-Yuste V, Hernández-Rivas JM, García-Sanz R, González-Díaz M, Sarasquete ME. Bastida JM, et al. Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13. Thromb Haemost. 2017. PMID: 27734074
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 Free article.
Top-level sport in athletes with severe haemophilia A.
Gonzalez-Porras JR, Lopez-Cadenas F, Alberca I, Bastida JM. Gonzalez-Porras JR, et al. Among authors: bastida jm. Haemophilia. 2017 Jul;23(4):e391-e393. doi: 10.1111/hae.13283. Epub 2017 Jun 2. Haemophilia. 2017. PMID: 28574636 No abstract available.
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.
68 results