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Page 1
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.
Pardos-Gea J, Martin-Fernandez L, Closa L, Ferrero A, Marzo C, Rubio-Rivas M, Mitjavila F, González-Porras JR, Bastida JM, Mateo J, Carrasco M, Bernardo Á, Astigarraga I, Aguinaco R, Corrales I, Garcia-Martínez I, Vidal F. Pardos-Gea J, et al. Among authors: martin fernandez l. Int J Mol Sci. 2023 Nov 15;24(22):16372. doi: 10.3390/ijms242216372. Int J Mol Sci. 2023. PMID: 38003562 Free PMC article.
First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Bandini P, Borràs N, Fernandez Mellid E, Martin-Fernandez L, Melero Valentín P, Comes N, Ramírez L, Cadahia Fernández P, Rodríguez Ruiz M, Perez Encinas MM, Vidal F, Corrales I. Bandini P, et al. Among authors: martin fernandez l. Br J Haematol. 2023 Nov;203(4):e102-e107. doi: 10.1111/bjh.19050. Epub 2023 Sep 11. Br J Haematol. 2023. PMID: 37696499 No abstract available.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
de la Morena-Barrio B, Palomo Á, Padilla J, Martín-Fernández L, Rojo-Carrillo JJ, Cifuentes R, Bravo-Pérez C, Garrido-Rodríguez P, Miñano A, Rubio AM, Pagán J, Llamas M, Vicente V, Vidal F, Lozano ML, Corral J, de la Morena-Barrio ME. de la Morena-Barrio B, et al. Among authors: martin fernandez l. J Thromb Haemost. 2023 Jul;21(7):1779-1788. doi: 10.1016/j.jtha.2023.03.009. Epub 2023 Mar 20. J Thromb Haemost. 2023. PMID: 36940803
Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.
Martin-Fernandez L, Garcia-Martínez I, Lopez S, Martinez-Perez A, Vilalta N, Plaza M, Moret C, Viñuela A, Brown AA, Panousis NI, Buil A, Dermitzakis ET, Corrales I, Souto JC, Vidal F, Soria JM. Martin-Fernandez L, et al. Thromb Haemost. 2023 Apr;123(4):438-452. doi: 10.1055/s-0043-1760844. Epub 2023 Jan 25. Thromb Haemost. 2023. PMID: 36696913
Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk.
Lopez S, Martinez-Perez A, Rodriguez-Rius A, Viñuela A, Brown AA, Martin-Fernandez L, Vilalta N, Arús M, Panousis NI, Buil A, Sabater-Lleal M, Souto JC, Dermitzakis ET, Soria JM. Lopez S, et al. Among authors: martin fernandez l. Thromb Haemost. 2022 Jun;122(6):1027-1039. doi: 10.1055/s-0041-1742169. Epub 2022 Mar 10. Thromb Haemost. 2022. PMID: 35272364 Free PMC article.
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N, Castillo-González D, Comes N, Martin-Fernandez L, Rivero-Jiménez RA, Chang-Monteagudo A, Ruiz-Moleón V, Garrote-Santana H, Vidal F, Macías-Abraham C. Borràs N, et al. Among authors: martin fernandez l. Haemophilia. 2022 Jan;28(1):125-137. doi: 10.1111/hae.14438. Epub 2021 Oct 28. Haemophilia. 2022. PMID: 34708896
Characterization of Microvascular Post Occlusive Hyperemia Using Laser Doppler Flowmetry Technique in Subjects With Cardiometabolic Disorders.
Fabregate-Fuente M, Arbeitman CR, Cymberknop LJ, Bara-Ledesma N, Arriazu-Galindo M, Martin-Fernandez L, Armentano RL, Saban-Ruiz J. Fabregate-Fuente M, et al. Among authors: martin fernandez l. Annu Int Conf IEEE Eng Med Biol Soc. 2019 Jul;2019:514-517. doi: 10.1109/EMBC.2019.8856623. Annu Int Conf IEEE Eng Med Biol Soc. 2019. PMID: 31945950
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
de la Morena-Barrio ME, Salloum-Asfar S, Esteban J, de la Morena-Barrio B, Altisent C, Martin-Fernández L, Gueguen P, Padilla J, Miñano A, Parra R, Vicente V, Vidal F, Bauduer F, Carbonell P, Corral J. de la Morena-Barrio ME, et al. Among authors: martin fernandez l. Blood. 2019 Jun 13;133(24):2618-2622. doi: 10.1182/blood.2019000055. Epub 2019 May 1. Blood. 2019. PMID: 31043424 Free article. No abstract available.
19 results