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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: cid ar. 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.
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.
Sánchez-Guiu I, Antón AI, Padilla J, Velasco F, Lucia JF, Lozano M, Cid AR, Sevivas T, Lopez-Fernandez MF, Vicente V, González-Manchón C, Rivera J, Lozano ML. Sánchez-Guiu I, et al. Among authors: cid ar. Orphanet J Rare Dis. 2014 Dec 24;9:213. doi: 10.1186/s13023-014-0213-6. Orphanet J Rare Dis. 2014. PMID: 25539746 Free PMC article.
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.
Martos L, Fernández-Pardo Á, López-Fernández MF, Ibáñez F, Herrero S, Tàssies D, González-Porras JR, Solmoirago MJ, Costa MJ, Reverter JC, Marco P, Roldán V, Lecumberri R, Velasco F, Oto J, Iruin G, Alonso MN, Vayá A, Bonanad S, Ferrando F, Martí E, Cid AR, Plana E, Oña F, Cuesta I, González-López TJ, España F, Medina P, Navarro S; Working Group of the Spanish Society of Thrombosis Haemostasis (SETH). Martos L, et al. Among authors: cid ar. Thromb Haemost. 2019 Sep;119(9):1409-1418. doi: 10.1055/s-0039-1692440. Epub 2019 Jun 29. Thromb Haemost. 2019. PMID: 31254973
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study.
Paciullo F, Bury L, Noris P, Falcinelli E, Melazzini F, Orsini S, Zaninetti C, Abdul-Kadir R, Obeng-Tuudah D, Heller PG, Glembotsky AC, Fabris F, Rivera J, Lozano ML, Butta N, Favier R, Cid AR, Fouassier M, Podda GM, Santoro C, Grandone E, Henskens Y, Nurden P, Zieger B, Cuker A, Devreese K, Tosetto A, De Candia E, Dupuis A, Miyazaki K, Othman M, Gresele P. Paciullo F, et al. Among authors: cid ar. Haematologica. 2020 Jul;105(7):1948-1956. doi: 10.3324/haematol.2019.227876. Epub 2019 Sep 26. Haematologica. 2020. PMID: 31558677 Free PMC article.
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.
Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders. Orsini S, et al. Among authors: cid ar. Haematologica. 2017 Jul;102(7):1192-1203. doi: 10.3324/haematol.2016.160754. Epub 2017 Apr 6. Haematologica. 2017. PMID: 28385783 Free PMC article.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N, Batlle J, Pérez-Rodríguez A, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: cid ar. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 Free PMC article.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Batlle J, Pérez-Rodríguez A, Corrales I, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto Mdel M, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Borràs N, Vidal F. Batlle J, et al. Among authors: cid ar. Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6. Thromb Haemost. 2016. PMID: 26245874
68 results