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De la Morena-Barrio B, Borras N, Rodriguez-Alen A, de la Morena-Barrio ME, Garcia-Hernandez JL, Padilla J, Bravo-Perez C, Minano A, Rollon N, Corral J, Vidal F, Vicente V. Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods. Br J Haematol. 2019 Aug;186(4):e82-e86. doi: 10.1111/bjh.15913. Epub 2019 Apr 2. No abstract available. PubMed PMID: 30941754.
AÑO: 2019; IF: 5.518
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30941754
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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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de la Morena-Barrio ME, Sabater M, de la Morena-Barrio B, Ruhaak RL, Minano A, Padilla J, Toderici M, Roldan V, Gimeno JR, Vicente V, Corral J. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant. Mol Genet Genomic Med. 2020 Aug;8(8):e1304. doi: 10.1002/mgg3.1304. Epub 2020 Jun 12. PubMed PMID: 32530140; PubMed Central PMCID: PMC7434597.
AÑO: 2020; IF: 2.183
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Bauduer F, de la Morena-Barrio ME, Salloum-Asfar S, de la Morena-Barrio B, Padilla J, Minano A, Vicente V, Carbonell P, Corral J, Esteban J. When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista. Med Hypotheses. 2020 Aug;141:109709. doi: 10.1016/j.mehy.2020.109709. Epub 2020 Apr 6. PubMed PMID: 32278893.
AÑO: 2020; IF: 1.538
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