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Page 1
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. PLoS One. 2016 Sep 29;11(9):e0163514. doi: 10.1371/journal.pone.0163514. eCollection 2016. PLoS One. 2016. PMID: 27684715 Free PMC article.
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E, Campuzano O, Pinsach-Abuin ML, Pérez-Serra A, Mademont-Soler I, Riuró H, Picó F, Coll M, Iglesias A, Pagans S, Sarquella-Brugada G, Berne P, Benito B, Brugada J, Porres JM, López Zea M, Castro-Urda V, Fernández-Lozano I, Brugada R. Selga E, et al. PLoS One. 2015 Jul 14;10(7):e0132888. doi: 10.1371/journal.pone.0132888. eCollection 2015. PLoS One. 2015. PMID: 26173111 Free PMC article.
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H, Campuzano O, Berne P, Arbelo E, Iglesias A, Pérez-Serra A, Coll-Vidal M, Partemi S, Mademont-Soler I, Picó F, Allegue C, Oliva A, Gerstenfeld E, Sarquella-Brugada G, Castro-Urda V, Fernández-Lozano I, Mont L, Brugada J, Scornik FS, Brugada R. Riuró H, et al. Eur J Hum Genet. 2015 Jan;23(1):79-85. doi: 10.1038/ejhg.2014.54. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667783 Free PMC article.
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. 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. 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.
Genetic analysis in post-mortem samples with micro-ischemic alterations.
Campuzano O, Sanchez-Molero O, Mademont-Soler I, Coll M, Allegue C, Ferrer-Costa C, Mates J, Perez-Serra A, Del Olmo B, Iglesias A, Sarquella-Brugada G, Brugada J, Borondo JC, Castella J, Medallo J, Brugada R. Campuzano O, et al. Forensic Sci Int. 2017 Feb;271:120-125. doi: 10.1016/j.forsciint.2016.12.035. Epub 2017 Jan 3. Forensic Sci Int. 2017. PMID: 28086167
Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.
Campuzano O, Sanchez-Molero O, Fernandez A, Mademont-Soler I, Coll M, Perez-Serra A, Mates J, Del Olmo B, Pico F, Nogue-Navarro L, Sarquella-Brugada G, Iglesias A, Cesar S, Carro E, Borondo JC, Brugada J, Castellà J, Medallo J, Brugada R. Campuzano O, et al. Sports Med. 2017 Oct;47(10):2101-2115. doi: 10.1007/s40279-017-0705-3. Sports Med. 2017. PMID: 28255936
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. 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. Among authors: mademont soler i. 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.
28 results