OpenURL Connection Search

Select item for more details and to access through your institution.

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
By:
- Martínez-Barrios, Estefanía;
- Sarquella-Brugada, Georgia;
- Pérez-Serra, Alexandra;
- Fernández-Falgueras, Anna;
- Cesar, Sergi;
- Coll, Mónica;
- Puigmulé, Marta;
- Iglesias, Anna;
- Alcalde, Mireia;
- Vallverdú-Prats, Marta;
- Ferrer-Costa, Carles;
- del Olmo, Bernat;
- Picó, Ferran;
- López, Laura;
- Fiol, Victoria;
- Cruzalegui, José;
- Hernández, Clara;
- Arbelo, Elena;
- Grassi, Simone;
- Oliva, Antonio
Publication type:
Article
Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 562, doi. 10.3390/jpm11060562
By:
- Diz, Olga María;
- Toro, Rocio;
- Cesar, Sergi;
- Gomez, Olga;
- Sarquella-Brugada, Georgia;
- Campuzano, Oscar
Publication type:
Article
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
By:
- Vallverdú-Prats, Marta;
- Alcalde, Mireia;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Arbelo, Elena;
- Fernandez-Falgueras, Anna;
- Coll, Mónica;
- Pérez-Serra, Alexandra;
- Puigmulé, Marta;
- Iglesias, Anna;
- Fiol, Victoria;
- Ferrer-Costa, Carles;
- del Olmo, Bernat;
- Picó, Ferran;
- Lopez, Laura;
- Jordà, Paloma;
- García-Álvarez, Ana;
- Tirón de Llano, Coloma;
- Toro, Rocío;
- Grassi, Simone
Publication type:
Article
Malignant Arrhythmogenic Role Associated with RBM20 : A Comprehensive Interpretation Focused on a Personalized Approach.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 130, doi. 10.3390/jpm11020130
By:
- Jordà, Paloma;
- Toro, Rocío;
- Diez, Carles;
- Salazar-Mendiguchía, Joel;
- Fernandez-Falgueras, Anna;
- Perez-Serra, Alexandra;
- Coll, Monica;
- Puigmulé, Marta;
- Arbelo, Elena;
- García-Álvarez, Ana;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Tiron, Coloma;
- Iglesias, Anna;
- Brugada, Josep;
- Brugada, Ramon;
- Campuzano, Oscar;
- Tan, Hanno L.
Publication type:
Article
Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7155, doi. 10.3390/ijms21197155
By:
- Campuzano, Oscar;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Arbelo, Elena;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Published in:
Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
By:
- Sarquella-Brugada, Georgia;
- Fernandez-Falgueras, Anna;
- Cesar, Sergi;
- Arbelo, Elena;
- Coll, Mónica;
- Perez-Serra, Alexandra;
- Puigmulé, Marta;
- Iglesias, Anna;
- Alcalde, Mireia;
- Vallverdú-Prats, Marta;
- Fiol, Victoria;
- Ferrer-Costa, Carles;
- del Olmo, Bernat;
- Picó, Ferran;
- Lopez, Laura;
- García-Alvarez, Ana;
- Jordà, Paloma;
- Tiron de Llano, Coloma;
- Toro, Rocío;
- Grassi, Simone
Publication type:
Article
Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1866, doi. 10.3390/jcm9061866
By:
- Campuzano, Oscar;
- Sarquella-Brugada, Georgia;
- Arbelo, Elena;
- Cesar, Sergi;
- Jordà, Paloma;
- Pérez-Serra, Alexandra;
- Toro, Rocío;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1035, doi. 10.3390/jcm8071035
By:
- Campuzano, Oscar;
- Fernandez-Falgueras, Anna;
- Lemus, Ximena;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Coll, Monica;
- Mates, Jesus;
- Arbelo, Elena;
- Jordà, Paloma;
- Perez-Serra, Alexandra;
- del Olmo, Bernat;
- Ferrer-Costa, Carles;
- Iglesias, Anna;
- Fiol, Victoria;
- Puigmulé, Marta;
- Lopez, Laura;
- Pico, Ferran;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 1035, doi. 10.3390/jcm8071035
By:
- Campuzano, Oscar;
- Fernandez-Falgueras, Anna;
- Lemus, Ximena;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Coll, Monica;
- Mates, Jesus;
- Arbelo, Elena;
- Jordà, Paloma;
- Perez-Serra, Alexandra;
- del Olmo, Bernat;
- Ferrer-Costa, Carles;
- Iglesias, Anna;
- Fiol, Victoria;
- Puigmulé, Marta;
- Lopez, Laura;
- Pico, Ferran;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Deporte y síndromes arritmogénicos hereditarios.
Published in:
Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación, 2024, v. 51, p. 719
By:
- Sarquella-Brugada, Georgia;
- Martínez-Barrios, Estefanía;
- Cesar, Sergi;
- Arbelo, Elena;
- Diez, Carles;
- Campuzano, Oscar
Publication type:
Article
Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.
Published in:
PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114894
By:
- 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
Publication type:
Article
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Published in:
International Journal of Legal Medicine, 2023, v. 137, n. 2, p. 345, doi. 10.1007/s00414-023-02951-0
By:
- Martinez-Barrios, Estefanía;
- Sarquella-Brugada, Georgia;
- Perez-Serra, Alexandra;
- Fernandez-Falgueras, Anna;
- Cesar, Sergi;
- Alcalde, Mireia;
- Coll, Mónica;
- Puigmulé, Marta;
- Iglesias, Anna;
- Ferrer-Costa, Carles;
- del Olmo, Bernat;
- Picó, Ferran;
- Lopez, Laura;
- Fiol, Victoria;
- Cruzalegui, José;
- Hernandez, Clara;
- Arbelo, Elena;
- Díez-Escuté, Nuria;
- Cerralbo, Patricia;
- Grassi, Simone
Publication type:
Article
Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?
Published in:
International Journal of Legal Medicine, 2016, v. 130, n. 2, p. 415, doi. 10.1007/s00414-016-1330-7
By:
- Sarquella-Brugada, Georgia;
- Campuzano, Oscar;
- Cesar, Sergi;
- Iglesias, Anna;
- Fernandez, Anna;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4406, doi. 10.3390/jcm11154406
By:
- Oliva, Antonio;
- Grassi, Simone;
- Pinchi, Vilma;
- Cazzato, Francesca;
- Coll, Mónica;
- Alcalde, Mireia;
- Vallverdú-Prats, Marta;
- Perez-Serra, Alexandra;
- Martínez-Barrios, Estefanía;
- Cesar, Sergi;
- Iglesias, Anna;
- Cruzalegui, José;
- Hernández, Clara;
- Fiol, Victoria;
- Arbelo, Elena;
- Díez-Escuté, Nuria;
- Arena, Vincenzo;
- Brugada, Josep;
- Sarquella-Brugada, Georgia;
- Brugada, Ramon
Publication type:
Article
Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.
Published in:
Sports Medicine, 2017, v. 47, n. 10, p. 2101, doi. 10.1007/s40279-017-0705-3
By:
- Campuzano, Oscar;
- Sanchez-Molero, Olallo;
- Fernandez, Anna;
- Mademont-Soler, Irene;
- Coll, Monica;
- Perez-Serra, Alexandra;
- Mates, Jesus;
- Olmo, Bernat;
- Pico, Ferran;
- Nogue-Navarro, Laia;
- Sarquella-Brugada, Georgia;
- Iglesias, Anna;
- Cesar, Sergi;
- Carro, Esther;
- Borondo, Juan;
- Brugada, Josep;
- Castellà, Josep;
- Medallo, Jordi;
- Brugada, Ramon
Publication type:
Article
Electrocardiogram in Newborns: Beneficial or Not?
Published in:
Pediatric Cardiology, 2019, v. 40, n. 6, p. 1320, doi. 10.1007/s00246-019-02142-y
By:
- Campuzano, Oscar;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Garcia-Algar, Oscar;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
Congenital heart block related to maternal autoantibodies: descriptive analysis of a series of 18 cases from a single center.
Published in:
Clinical Rheumatology, 2016, v. 35, n. 2, p. 351, doi. 10.1007/s10067-016-3174-4
By:
- Doti, Pamela;
- Escoda, Ona;
- Cesar-Díaz, Sergi;
- Palasti, Silvia;
- Teixidó, Irene;
- Sarquella-Brugada, Georgia;
- Gómez, Olga;
- Martínez, Josep;
- Espinosa, Gerard
Publication type:
Article
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00450
By:
- Campuzano, Oscar;
- Fernandez-Falgueras, Anna;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Arbelo, Elena;
- García-Álvarez, Ana;
- Jordà, Paloma;
- Coll, Monica;
- Fiol, Victoria;
- Iglesias, Anna;
- Perez-Serra, Alexandra;
- Mates, Jesus;
- del Olmo, Bernat;
- Ferrer, Carles;
- Alcalde, Mireia;
- Puigmulé, Marta;
- Mademont-Soler, Irene;
- Pico, Ferran;
- Lopez, Laura;
- Tiron, Coloma
Publication type:
Article
Functional and morphometric changes in children after neonatal arterial switch operation for transposition of the great arteries.
Published in:
Annals of Pediatric Cardiology, 2022, v. 15, n. 5/6, p. 447, doi. 10.4103/apc.apc_46_22
By:
- Walter, Carin Cristina;
- Escobar-Diaz, Maria Clara;
- Cesar, Sergi;
- Moscoso Garrido, Bosco Alejandro;
- Sanchez-de-Toledo, Joan
Publication type:
Article
¿Se puede predecir y prevenir la muerte súbita cardiaca en sujetos jóvenes? Algunas indicaciones para el urgenciólogo.
Published in:
Emergencias, 2018, v. 30, n. 3, p. 194
By:
- White, Jennifer L.;
- Chang, Anna Marie;
- Cesar, Sergi;
- Sarquella-Brugada, Georgia
Publication type:
Article
Cardiac Remodeling and Hypertension in HIV-Uninfected Infants Exposed in utero to Antiretroviral Therapy.
Published in:
Clinical Infectious Diseases, 2021, v. 73, n. 4, p. 586, doi. 10.1093/cid/ciab030
By:
- García-Otero, Laura;
- López, Marta;
- Goncé, Anna;
- Fortuny, Claudia;
- Salazar, Laura;
- Valenzuela-Alcaraz, Brenda;
- Guirado, Laura;
- César, Sergi;
- Gratacós, Eduard;
- Crispi, Fátima
Publication type:
Article
Cardiac Abnormalities Seen in Pediatric Patients During the SARS-CoV2 Pandemic: An International Experience.
Published in:
2020
By:
- Clark, Bradley C;
- Sanchez-de-Toledo, Joan;
- Bautista-Rodriguez, Carles;
- Choueiter, Nadine;
- Lara, Diego;
- Kang, Hechaan;
- Mohsin, Shazia;
- Fraisse, Alain;
- Cesar, Sergi;
- Sattar Shaikh, Abdul;
- Escobar-Diaz, Maria C;
- Hsu, Daphne T;
- Randanne, Paula C;
- Aslam, Nadeem;
- Kleinmahon, Jake;
- Lamour, Jacqueline M;
- Johnson, Jonathan N;
- Sarquella-Brugada, Georgia;
- Chowdhury, Devyani
Publication type:
journal article
Cardiac Abnormalities Seen in Pediatric Patients During the SARS-CoV2 Pandemic: An International Experience.
Published in:
Journal of the American Heart Association, 2020, v. 9, n. 21, p. 1, doi. 10.1161/jaha.120.018007
By:
- Clark, Bradley C.;
- Sanchez-de-Toledo, Joan;
- Bautista-Rodriguez, Carles;
- Choueiter, Nadine;
- Lara, Diego;
- Kang, Hechaan;
- Mohsin, Shazia;
- Fraisse, Alain;
- Cesar, Sergi;
- Shaikh, Abdul Sattar;
- Escobar-Diaz, Maria C.;
- Hsu, Daphne T.;
- Randanne, Paula C.;
- Aslam, Nadeem;
- Kleinmahon, Jake;
- Lamour, Jacqueline M.;
- Johnson, Jonathan N.;
- Sarquella-Brugada, Georgia;
- Chowdhury, Devyani
Publication type:
Article
Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Published in:
2017
By:
- 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
Publication type:
Correction Notice
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Published in:
PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167358
By:
- 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
Publication type:
Article
Large Genomic Imbalances in Brugada Syndrome.
Published in:
PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163514
By:
- 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
Publication type:
Article
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Published in:
Biomedicines, 2022, v. 10, n. 1, p. 106, doi. 10.3390/biomedicines10010106
By:
- Martínez-Barrios, Estefanía;
- Cesar, Sergi;
- Cruzalegui, José;
- Hernandez, Clara;
- Arbelo, Elena;
- Fiol, Victoria;
- Brugada, Josep;
- Brugada, Ramon;
- Campuzano, Oscar;
- Sarquella-Brugada, Georgia
Publication type:
Article
Neuromuscular diseases with hypertrophic cardiomyopathy.
Published in:
Global Cardiology Science & Practice, 2018, v. 2018, n. 3, p. 1, doi. 10.21542/gcsp.2018.27
By:
- Cesar, Sergi
Publication type:
Article
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730
By:
- 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
Publication type:
Article
Short QT syndrome in pediatrics.
Published in:
Clinical Research in Cardiology, 2017, v. 106, n. 6, p. 393, doi. 10.1007/s00392-017-1094-1
By:
- Pereira, Roberta;
- Campuzano, Oscar;
- Sarquella-Brugada, Georgia;
- Cesar, Sergi;
- Iglesias, Anna;
- Brugada, Josep;
- Cruz Filho, Fernando;
- Brugada, Ramon
Publication type:
Article
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
By:
- Cesar, Sergi;
- Coll, Monica;
- Fiol, Victoria;
- Fernandez-Falgueras, Anna;
- Cruzalegui, Jose;
- Iglesias, Anna;
- Moll, Isaac;
- Perez-Serra, Alexandra;
- Martínez-Barrios, Estefanía;
- Ferrer-Costa, Carles;
- del Olmo, Bernat;
- Puigmulè, Marta;
- Alcalde, Mireia;
- Lopez, Laura;
- Pico, Ferran;
- Berrueco, Rubén;
- Brugada, Josep;
- Zschaeck, Irene;
- Natera-de Benito, Daniel;
- Carrera-García, Laura
Publication type:
Article
Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
Published in:
2024
By:
- Fogaça-da-Mata, Miguel;
- Martínez-Barrios, Estefanía;
- Jiménez-Montañés, Lorenzo;
- Cruzalegui, José;
- Chipa-Ccasani, Fredy;
- Greco, Andrea;
- Cesar, Sergi;
- Díez-Escuté, Núria;
- Cerralbo, Patricia;
- Zschaeck, Irene;
- Clavero Adell, Marcos;
- Ayerza-Casas, Ariadna;
- Palanca-Arias, Daniel;
- López, Marta;
- Campuzano, Oscar;
- Brugada, Josep;
- Sarquella-Brugada, Georgia
Publication type:
Case Study
Cardiac and mitochondrial function in HIV-uninfected fetuses exposed to antiretroviral treatment.
Published in:
PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213279
By:
- García-Otero, Laura;
- López, Marta;
- Guitart-Mampel, Mariona;
- Morén, Constanza;
- Goncé, Anna;
- Esteve, Carol;
- Salazar, Laura;
- Gómez, Olga;
- Martínez, Josep María;
- Torres, Berta;
- César, Sergi;
- Garrabou, Glòria;
- Crispi, Fàtima;
- Gratacós, Eduard
Publication type:
Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
By:
- 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
Publication type:
Article
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3807, doi. 10.3390/ijms25073807
By:
- Pérez-Serra, Alexandra;
- Toro, Rocío;
- Martinez-Barrios, Estefanía;
- Iglesias, Anna;
- Fernandez-Falgueras, Anna;
- Alcalde, Mireia;
- Coll, Mónica;
- Puigmulé, Marta;
- del Olmo, Bernat;
- Picó, Ferran;
- Lopez, Laura;
- Arbelo, Elena;
- Cesar, Sergi;
- Llano, Coloma Tiron de;
- Mangas, Alipio;
- Brugada, Josep;
- Sarquella-Brugada, Georgia;
- Brugada, Ramon;
- Campuzano, Oscar
Publication type:
Article

Found: 35