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Orlando C, de la Morena-Barrio B, Pareyn I, Vanhoorelbeke K, Martinez-Martinez I, Vicente V, Corral J, Jochmans K, de la Morena-Barrio ME. Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency. Thromb Haemost. 2021 Feb;121(2):182-191. doi: 10.1055/s-0040-1716531. Epub 2020 Sep 13. PubMed PMID: 32920809.
AÑO: 2021; IF: 6.681
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32920809
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Lopez-Galvez R, de la Morena-Barrio ME, Lopez-Lera A, Pathak M, Minano A, Serrano M, Borgel D, Roldan V, Vicente V, Emsley J, Corral J. Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway. Orphanet J Rare Dis. 2020 Oct 9;15(1):280. doi: 10.1186/s13023-020-01564-9. PubMed PMID: 33036649; PubMed Central PMCID: PMC7547467.
AÑO: 2020; IF: 4.123
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Corvillo F, de la Morena-Barrio ME, Marcos-Bravo C, Lopez-Trascasa M, Vicente V, Emsley J, Caballero T, Corral J, Lopez-Lera A. The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant. Front Genet. 2020 Sep 10;11:1033. doi: 10.3389/fgene.2020.01033. eCollection 2020. PubMed PMID: 33133137; PubMed Central PMCID: PMC7549737.
AÑO: 2020; IF: 4.599
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Palma-Barqueros V, Crescente M, de la Morena ME, Chan MV, Almarza E, Revilla N, Bohdan N, Minano A, Padilla J, Allan HE, Maffucci T, Edin ML, Zeldin DC, Mesa-Nunez C, Damian C, Marin-Quilez A, Benito R, Martinez-Martinez I, Bermejo N, Casas-Aviles I, Rodriguez-Alen A, Gonzalez-Porras JR, Hernandez-Rivas JM, Vicente V, Corral J, Lozano ML, Warner TD, Bastida JM, Rivera J. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis. Am J Hematol. 2021 Mar 1;96(3):E83-E88. doi: 10.1002/ajh.26076. Epub 2021 Jan 5. No abstract available. PubMed PMID: 33326144; PubMed Central PMCID: PMC10938055.
AÑO: 2021; IF: 13.265
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Bravo-Perez C, de la Morena-Barrio ME, Palomo A, Entrena L, de la Morena-Barrio B, Padilla J, Minano A, Navarro E, Cifuentes R, Corral J, Vicente V. Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo. Br J Haematol. 2020 Oct;191(1):e32-e35. doi: 10.1111/bjh.16963. Epub 2020 Jul 19. No abstract available. PubMed PMID: 32686144.
AÑO: 2020; IF: 6.998
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