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Page 1
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Coll M, Fiol V, Iglesias A, Perez-Serra A, Mates J, Del Olmo B, Ferrer C, Alcalde M, Puigmulé M, Mademont-Soler I, Pico F, Lopez L, Tiron C, Brugada J, Brugada R. Campuzano O, et al. Among authors: mates j. Front Genet. 2019 May 15;10:450. doi: 10.3389/fgene.2019.00450. eCollection 2019. Front Genet. 2019. PMID: 31156706 Free PMC article.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 Free PMC article.
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O, Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S, Coll M, Mates J, Arbelo E, Perez-Serra A, Del Olmo B, Jordá P, Fiol V, Iglesias A, Puigmulé M, Lopez L, Pico F, Brugada J, Brugada R. Campuzano O, et al. Among authors: mates j. Hum Mutat. 2019 Jun;40(6):749-764. doi: 10.1002/humu.23730. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30821013
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O, Fernandez-Falgueras A, Lemus X, Sarquella-Brugada G, Cesar S, Coll M, Mates J, Arbelo E, Jordà P, Perez-Serra A, Del Olmo B, Ferrer-Costa C, Iglesias A, Fiol V, Puigmulé M, Lopez L, Pico F, Brugada J, Brugada R. Campuzano O, et al. Among authors: mates j. J Clin Med. 2019 Jul 16;8(7):1035. doi: 10.3390/jcm8071035. J Clin Med. 2019. PMID: 31315195 Free PMC article.
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O. Mates J, et al. Forensic Sci Int Genet. 2020 Jul;47:102281. doi: 10.1016/j.fsigen.2020.102281. Epub 2020 Mar 20. Forensic Sci Int Genet. 2020. PMID: 32248082 Review.
The role of clinical, genetic and segregation evaluation in sudden infant death.
Campuzano O, Allegue C, Sarquella-Brugada G, Coll M, Mates J, Alcalde M, Ferrer-Costa C, Iglesias A, Brugada J, Brugada R. Campuzano O, et al. Among authors: mates j. Forensic Sci Int. 2014 Sep;242:9-15. doi: 10.1016/j.forsciint.2014.06.007. Epub 2014 Jun 13. Forensic Sci Int. 2014. PMID: 25016126
Post-mortem genetic analysis in juvenile cases of sudden cardiac death.
Campuzano O, Sanchez-Molero O, Allegue C, Coll M, Mademont-Soler I, Selga E, Ferrer-Costa C, Mates J, Iglesias A, Sarquella-Brugada G, Cesar S, Brugada J, Castellà J, Medallo J, Brugada R. Campuzano O, et al. Among authors: mates j. Forensic Sci Int. 2014 Dec;245:30-7. doi: 10.1016/j.forsciint.2014.10.004. Epub 2014 Oct 14. Forensic Sci Int. 2014. PMID: 25447171
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Campuzano O, Sanchez-Molero O, Mademont-Soler I, Riuró H, Allegue C, Coll M, Pérez-Serra A, Mates J, Picó F, Iglesias A, Brugada R. Campuzano O, et al. Among authors: mates j. Int J Mol Sci. 2015 Oct 27;16(10):25773-87. doi: 10.3390/ijms161025773. Int J Mol Sci. 2015. PMID: 26516846 Free PMC article.
Large Genomic Imbalances in Brugada Syndrome.
Mademont-Soler I, Pinsach-Abuin ML, Riuró H, Mates J, Pérez-Serra A, Coll M, Porres JM, Del Olmo B, Iglesias A, Selga E, Picó F, Pagans S, Ferrer-Costa C, Sarquella-Brugada G, Arbelo E, Cesar S, Brugada J, Campuzano Ó, Brugada R. Mademont-Soler I, et al. Among authors: mates j. PLoS One. 2016 Sep 29;11(9):e0163514. doi: 10.1371/journal.pone.0163514. eCollection 2016. PLoS One. 2016. PMID: 27684715 Free PMC article.
183 results