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Page 1
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. 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.
Single agent subcutaneous blinatumomab for advanced acute lymphoblastic leukemia.
Jabbour E, Zugmaier G, Agrawal V, Martínez-Sánchez P, Rifón Roca JJ, Cassaday RD, Böll B, Rijneveld A, Abdul-Hay M, Huguet F, Cluzeau T, Díaz MT, Vucinic V, González-Campos J, Rambaldi A, Schwartz S, Berthon C, Hernández-Rivas JM, Gordon PR, Brüggemann M, Hamidi A, Chen Y, Wong HL, Panwar B, Katlinskaya Y, Markovic A, Kantarjian H. Jabbour E, et al. Am J Hematol. 2024 Apr;99(4):586-595. doi: 10.1002/ajh.27227. Epub 2024 Feb 5. Am J Hematol. 2024. PMID: 38317420
Multivariate time-dependent comparison of the impact of lenalidomide in lower-risk myelodysplastic syndromes with chromosome 5q deletion.
Sánchez-García J, Del Cañizo C, Lorenzo I, Nomdedeu B, Luño E, de Paz R, Xicoy B, Valcárcel D, Brunet S, Marco-Betes V, García-Pintos M, Osorio S, Tormo M, Bailén A, Cerveró C, Ramos F, Diez-Campelo M, Such E, Arrizabalaga B, Azaceta G, Bargay J, Arilla MJ, Falantes J, Serrano-López J, Sanz GF; Spanish Group on Myelodysplastic Syndromes (GES MD). Sánchez-García J, et al. Br J Haematol. 2014 Jul;166(2):189-201. doi: 10.1111/bjh.12876. Epub 2014 Apr 10. Br J Haematol. 2014. PMID: 24716538 Free article.
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
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. Platelets. 2018 Mar;29(2):192-195. doi: 10.1080/09537104.2017.1336214. Epub 2017 Aug 1. Platelets. 2018. PMID: 28762304 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.
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.
183 results