Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy
Camiña‐Conforto, Gemma, Ivars, Marta, Sarquella‐Brugada, Georgia, Valera‐Dávila, Carlos, Salvador, Héctor, Rovira, Carlota, Baselga, Eulalia
Published in Pediatric dermatology (01.09.2024)
Published in Pediatric dermatology (01.09.2024)
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Journal Article
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome
Campuzano, Oscar, Sarquella‐Brugada, Georgia, Fernandez‐Falgueras, Anna, Cesar, Sergi, Coll, Monica, Mates, Jesus, Arbelo, Elena, Perez‐Serra, Alexandra, del Olmo, Bernat, Jordá, Paloma, Fiol, Victoria, Iglesias, Anna, Puigmulé, Marta, Lopez, Laura, Pico, Ferran, Brugada, Josep, Brugada, Ramon
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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Journal Article
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation
Sanchez, Olallo, Campuzano, Oscar, Fernández-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Mademont, Irene, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Monica, Pico, Ferran, Iglesias, Anna, Tirón, Coloma, Allegue, Catarina, Carro, Esther, Gallego, María Ángeles, Ferrer-Costa, Carles, Hospital, Anna, Bardalet, Narcís, Borondo, Juan Carlos, Vingut, Albert, Arbelo, Elena, Brugada, Josep, Castellà, Josep, Medallo, Jordi, Brugada, Ramon
Published in PloS one (08.12.2016)
Published in PloS one (08.12.2016)
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Journal Article
Large Genomic Imbalances in Brugada Syndrome
Mademont-Soler, Irene, Pinsach-Abuin, Mel Lina, Riuró, Helena, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Mònica, Porres, José Manuel, Del Olmo, Bernat, Iglesias, Anna, Selga, Elisabet, Picó, Ferran, Pagans, Sara, Ferrer-Costa, Carles, Sarquella-Brugada, Geòrgia, Arbelo, Elena, Cesar, Sergi, Brugada, Josep, Campuzano, Óscar, Brugada, Ramon
Published in PloS one (29.09.2016)
Published in PloS one (29.09.2016)
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Journal Article
Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology
Campuzano, Oscar, Sarquella-Brugada, Georgia, Mademont-Soler, Irene, Allegue, Catarina, Cesar, Sergi, Ferrer-Costa, Carles, Coll, Monica, Mates, Jesus, Iglesias, Anna, Brugada, Josep, Brugada, Ramon
Published in PloS one (10.12.2014)
Published in PloS one (10.12.2014)
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Journal Article
Post-mortem genetic analysis in juvenile cases of sudden cardiac death
Campuzano, Oscar, Sanchez-Molero, Olallo, Allegue, Catarina, Coll, Monica, Mademont-Soler, Irene, Selga, Elisabet, Ferrer-Costa, Carles, Mates, Jesus, Iglesias, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Brugada, Josep, Castellà, Josep, Medallo, Jordi, Brugada, Ramon
Published in Forensic science international (01.12.2014)
Published in Forensic science international (01.12.2014)
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Journal Article
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort
Selga, Elisabet, Campuzano, Oscar, Pinsach-Abuin, Mel Lina, Pérez-Serra, Alexandra, Mademont-Soler, Irene, Riuró, Helena, Picó, Ferran, Coll, Mònica, Iglesias, Anna, Pagans, Sara, Sarquella-Brugada, Georgia, Berne, Paola, Benito, Begoña, Brugada, Josep, Porres, José M, López Zea, Matilde, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Brugada, Ramon
Published in PloS one (14.07.2015)
Published in PloS one (14.07.2015)
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Journal Article
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy
Alcalde, Mireia, Campuzano, Oscar, Berne, Paola, García-Pavía, Pablo, Doltra, Ada, Arbelo, Elena, Sarquella-Brugada, Georgia, Iglesias, Anna, Alonso-Pulpon, Luis, Brugada, Josep, Brugada, Ramon
Published in PloS one (26.06.2014)
Published in PloS one (26.06.2014)
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Journal Article
Molecular autopsy in sudden cardiac death
Campuzano, Oscar, Sarquella-Brugada, Georgia
Published in Global Cardiology Science & Practice (30.01.2023)
Published in Global Cardiology Science & Practice (30.01.2023)
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Journal Article
Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement
Brugada, Josep, Blom, Nico, Sarquella-Brugada, Georgia, Blomstrom-Lundqvist, Carina, Deanfield, John, Janousek, Jan, Abrams, Dominic, Bauersfeld, Urs, Brugada, Ramon, Drago, Fabrizio, de Groot, Natasja, Happonen, Juha-Matti, Hebe, Joachim, Yen Ho, Siew, Marijon, Eloi, Paul, Thomas, Pfammatter, Jean-Pierre, Rosenthal, Eric
Published in Europace (London, England) (01.09.2013)
Published in Europace (London, England) (01.09.2013)
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Journal Article
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Mazzanti, Andrea, Guz, Dmitri, Trancuccio, Alessandro, Pagan, Eleonora, Kukavica, Deni, Chargeishvili, Tekla, Olivetti, Natalia, Biernacka, Elżbieta Katarzyna, Sacilotto, Luciana, Sarquella-Brugada, Georgia, Campuzano, Oscar, Nof, Eyal, Anastasakis, Aristides, Sansone, Valeria A., Jimenez-Jaimez, Juan, Cruz, Fernando, Sánchez-Quiñones, Jessica, Hernandez-Afonso, Julio, Fuentes, Maria Eugenia, Średniawa, Beata, Garoufi, Anastasia, Andršová, Irena, Izquierdo, Maite, Marinov, Rumen, Danon, Asaf, Expósito-García, Victor, Garcia-Fernandez, Amaya, Muñoz-Esparza, Carmen, Ortíz, Martín, Zienciuk-Krajka, Agnieszka, Tavazzani, Elisa, Monteforte, Nicola, Bloise, Raffaella, Marino, Maira, Memmi, Mirella, Napolitano, Carlo, Zorio, Esther, Monserrat, Lorenzo, Bagnardi, Vincenzo, Priori, Silvia G.
Published in Journal of the American College of Cardiology (21.04.2020)
Published in Journal of the American College of Cardiology (21.04.2020)
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Journal Article
miR-16-5p Suppression Protects Human Cardiomyocytes against Endoplasmic Reticulum and Oxidative Stress-Induced Injury
Toro, Rocío, Pérez-Serra, Alexandra, Mangas, Alipio, Campuzano, Oscar, Sarquella-Brugada, Georgia, Quezada-Feijoo, Maribel, Ramos, Mónica, Alcalá, Martin, Carrera, Esther, García-Padilla, Carlos, Franco, Diego, Bonet, Fernando
Published in International journal of molecular sciences (18.01.2022)
Published in International journal of molecular sciences (18.01.2022)
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Journal Article
Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
Grassi, Simone, Campuzano, Oscar, Coll, Mònica, Cazzato, Francesca, Sarquella-Brugada, Georgia, Rossi, Riccardo, Arena, Vincenzo, Brugada, Josep, Brugada, Ramon, Oliva, Antonio
Published in International journal of molecular sciences (16.04.2021)
Published in International journal of molecular sciences (16.04.2021)
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Journal Article
The Role of MicroRNAs in Dilated Cardiomyopathy: New Insights for an Old Entity
Alonso-Villa, Elena, Bonet, Fernando, Hernandez-Torres, Francisco, Campuzano, Óscar, Sarquella-Brugada, Georgia, Quezada-Feijoo, Maribel, Ramos, Mónica, Mangas, Alipio, Toro, Rocío
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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Journal Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins
Martínez Olorón, Patricia, Alegría, Iosune, Cesar, Sergi, Del Olmo, Bernat, Martínez-Barrios, Estefanía, Carrera-García, Laura, Natera-de Benito, Daniel, Nascimento, Andrés, Campuzano, Oscar, Sarquella-Brugada, Georgia
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Recent Advances in Short QT Syndrome
Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Brugada, Josep, Brugada, Ramon
Published in Frontiers in cardiovascular medicine (29.10.2018)
Published in Frontiers in cardiovascular medicine (29.10.2018)
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Journal Article
Circulating circRNA as biomarkers for dilated cardiomyopathy etiology
Costa, Marina C., Calderon-Dominguez, Maria, Mangas, Alipio, Campuzano, Oscar, Sarquella-Brugada, Georgia, Ramos, Mónica, Quezada-Feijoo, Maribel, Pinilla, José Manuel García, Robles-Mezcua, Ainhoa, del Aguila Pacheco-Cruz, Galan, Belmonte, Thalia, Enguita, Francisco J., Toro, Rocío
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
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Journal Article