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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. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. Review. PubMed PMID: 28696550.
AÑO: 2017; IF: 4.899
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28696550
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Cid AR, Montesinos P, Sánchez-Guiu I, Haya S, Lorenzo JI, Sanz J, Moscardo F, Puig N, Planelles D, Bonanad S, Sanz GF, Vicente V, González-Manchón C, Lozano ML, Rivera J, Sanz MA. Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. Clin Case Rep. 2017 Oct 5;5(11):1887-1890. doi: 10.1002/ccr3.1206. eCollection 2017 Nov. PubMed PMID: 29152293; PubMed Central PMCID: PMC5676254.
AÑO: 2017
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Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31. PubMed PMID: 28774589; PubMed Central PMCID: PMC5646945.
AÑO: 2017; IF: 6.448
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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. Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis. Platelets. 2018 Mar;29(2):192-195. doi: 10.1080/09537104.2017.1336214. Epub 2017 Aug 1. PubMed PMID: 28762304; PubMed Central PMCID: PMC5942149.
AÑO: 2018; IF: 3.106
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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. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. PubMed PMID: 28983057; PubMed Central PMCID: PMC5777202.
AÑO: 2018; IF: 7.57
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