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186 results

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Brugada J, Fernandez-Aviles F, Brugada R. Mademont-Soler I, et al. Among authors: mates j. PLoS One. 2017 Aug 3;12(8):e0181465. doi: 10.1371/journal.pone.0181465. eCollection 2017. PLoS One. 2017. PMID: 28771489 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.
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.
186 results