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Page 1
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. Among authors: sevivas t. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
de la Morena-Barrio ME, Hernández-Caselles T, Corral J, García-López R, Martínez-Martínez I, Pérez-Dueñas B, Altisent C, Sevivas T, Kristensen SR, Guillén-Navarro E, Miñano A, Vicente V, Jaeken J, Lozano ML. de la Morena-Barrio ME, et al. Among authors: sevivas t. Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170. Orphanet J Rare Dis. 2013. PMID: 24139637 Free PMC article.
Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J. de la Morena-Barrio ME, et al. Among authors: sevivas t. Thromb Res. 2014 Mar;133(3):412-7. doi: 10.1016/j.thromres.2013.12.024. Epub 2013 Dec 21. Thromb Res. 2014. PMID: 24388574
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: sevivas t. 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.
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V. de la Morena-Barrio ME, et al. Among authors: sevivas t. J Thromb Haemost. 2016 Aug;14(8):1549-60. doi: 10.1111/jth.13372. Epub 2016 Jun 29. J Thromb Haemost. 2016. PMID: 27214821 Free article.
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.
Defects of splicing in antithrombin deficiency.
de la Morena-Barrio ME, López-Gálvez R, Martínez-Martínez I, Asenjo S, Sevivas TS, López MF, Wypasek E, Entrena L, Vicente V, Corral J. de la Morena-Barrio ME, et al. Among authors: sevivas ts. Res Pract Thromb Haemost. 2017 Jul 14;1(2):216-222. doi: 10.1002/rth2.12025. eCollection 2017 Oct. Res Pract Thromb Haemost. 2017. PMID: 30046692 Free PMC article.
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases; Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD. Westbury SK, et al. Among authors: sevivas t. Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. Blood Adv. 2018. PMID: 30232087 Free PMC article.
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC.
Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A; BAT-VAL study investigators. Gresele P, et al. J Thromb Haemost. 2020 Mar;18(3):732-739. doi: 10.1111/jth.14683. Epub 2019 Dec 16. J Thromb Haemost. 2020. PMID: 31750621 Free article.
Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.
Martinez-Navajas G, Ceron-Hernandez J, Simon I, Lupiañez P, Diaz-McLynn S, Perales S, Modlich U, Guerrero JA, Martin F, Sevivas T, Lozano ML, Rivera J, Ramos-Mejia V, Tersteeg C, Real PJ. Martinez-Navajas G, et al. Among authors: sevivas t. Mol Ther Nucleic Acids. 2023 Jun 12;33:75-92. doi: 10.1016/j.omtn.2023.06.008. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37416759 Free PMC article.
23 results