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2014 3
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Page 1
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
Pérez-Serra A, Toro R, Martinez-Barrios E, Iglesias A, Fernandez-Falgueras A, Alcalde M, Coll M, Puigmulé M, Del Olmo B, Picó F, Lopez L, Arbelo E, Cesar S, Llano CT, Mangas A, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O. Pérez-Serra A, et al. Among authors: coll m. Int J Mol Sci. 2024 Mar 29;25(7):3807. doi: 10.3390/ijms25073807. Int J Mol Sci. 2024. PMID: 38612618 Free PMC article.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, Iglesias A, Moll I, Perez-Serra A, Martínez-Barrios E, Ferrer-Costa C, Del Olmo B, Puigmulè M, Alcalde M, Lopez L, Pico F, Berrueco R, Brugada J, Zschaeck I, Natera-de Benito D, Carrera-García L, Exposito-Escudero J, Ortez C, Nascimento A, Brugada R, Sarquella-Brugada G, Campuzano O. Cesar S, et al. Among authors: coll m. Front Genet. 2023 Mar 24;14:1135438. doi: 10.3389/fgene.2023.1135438. eCollection 2023. Front Genet. 2023. PMID: 37035729 Free PMC article.
Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.
Martínez-Barrios E, Grassi S, Brión M, Toro R, Cesar S, Cruzalegui J, Coll M, Alcalde M, Brugada R, Greco A, Ortega-Sánchez ML, Barberia E, Oliva A, Sarquella-Brugada G, Campuzano O. Martínez-Barrios E, et al. Among authors: coll m. Front Med (Lausanne). 2023 Feb 10;10:1118585. doi: 10.3389/fmed.2023.1118585. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844202 Free PMC article. Review.
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Martinez-Barrios E, Sarquella-Brugada G, Perez-Serra A, Fernandez-Falgueras A, Cesar S, Alcalde M, Coll M, Puigmulé M, Iglesias A, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, Fiol V, Cruzalegui J, Hernandez C, Arbelo E, Díez-Escuté N, Cerralbo P, Grassi S, Oliva A, Toro R, Brugada J, Brugada R, Campuzano O. Martinez-Barrios E, et al. Among authors: coll m. Int J Legal Med. 2023 Mar;137(2):345-351. doi: 10.1007/s00414-023-02951-0. Epub 2023 Jan 25. Int J Legal Med. 2023. PMID: 36693943 Free PMC article.
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
Coll M, Fernandez-Falgueras A, Iglesias A, Del Olmo B, Nogue-Navarro L, Simon A, Perez Serra A, Puigmule M, Lopez L, Pico F, Corona M, Vallverdu-Prats M, Tiron C, Campuzano O, Castella J, Brugada R, Alcalde M. Coll M, et al. Int J Mol Sci. 2022 Oct 20;23(20):12640. doi: 10.3390/ijms232012640. Int J Mol Sci. 2022. PMID: 36293497 Free PMC article.
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
Oliva A, Grassi S, Pinchi V, Cazzato F, Coll M, Alcalde M, Vallverdú-Prats M, Perez-Serra A, Martínez-Barrios E, Cesar S, Iglesias A, Cruzalegui J, Hernández C, Fiol V, Arbelo E, Díez-Escuté N, Arena V, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O. Oliva A, et al. Among authors: coll m. J Clin Med. 2022 Jul 28;11(15):4406. doi: 10.3390/jcm11154406. J Clin Med. 2022. PMID: 35956023 Free PMC article. Review.
Post-mortem toxicology analysis in a young sudden cardiac death cohort.
Coll M, Fernàndez-Falgueras A, Tiron C, Iglesias A, Buxó M, Simón A, Nogué-Navarro L, Moral S, Pérez-Serra A, Puigmulé M, Del Olmo B, Campuzano O, Castellà J, Picó F, Lopez L, Neto N, Corona M, Alcalde M, Brugada R. Coll M, et al. Forensic Sci Int Genet. 2022 Jul;59:102723. doi: 10.1016/j.fsigen.2022.102723. Epub 2022 May 16. Forensic Sci Int Genet. 2022. PMID: 35640313
52 results