Works by Mademont, Irene


Results: 22
    1
    2
    3

    ZDHHC15 as a candidate gene for autism spectrum disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 941, doi. 10.1002/ajmg.a.63099
    By:
    • Casellas‐Vidal, Dolors;
    • Mademont‐Soler, Irene;
    • Sánchez, Joana;
    • Plaja, Alberto;
    • Castells, Neus;
    • Camós, Maria;
    • Nieto‐Moragas, Javier;
    • del Mar García, Maria;
    • Rodriguez‐Solera, Celia;
    • Rivera, Helena;
    • Brunet, Joan;
    • Álvarez, Sara;
    • Perapoch, Josep;
    • Queralt, Xavier;
    • Obón, María
    Publication type:
    Article
    4

    Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 1, p. 79, doi. 10.1038/ejhg.2014.54
    By:
    • Riuró, Helena;
    • Campuzano, Oscar;
    • Berne, Paola;
    • Arbelo, Elena;
    • Iglesias, Anna;
    • Pérez-Serra, Alexandra;
    • Coll-Vidal, Mònica;
    • Partemi, Sara;
    • Mademont-Soler, Irene;
    • Picó, Ferran;
    • Allegue, Catarina;
    • Oliva, Antonio;
    • Gerstenfeld, Edward;
    • Sarquella-Brugada, Georgia;
    • Castro-Urda, Víctor;
    • Fernández-Lozano, Ignacio;
    • Mont, Lluís;
    • Brugada, Josep;
    • Scornik, Fabiana S;
    • Brugada, Ramon
    Publication type:
    Article
    5

    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
    6

    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
    7

    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
    8

    Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

    Published in:
    International Journal of Molecular Sciences, 2015, v. 16, n. 10, p. 25773, doi. 10.3390/ijms161025773
    By:
    • Campuzano, Oscar;
    • Sanchez-Molero, Olallo;
    • Mademont-Soler, Irene;
    • Riuró, Helena;
    • Allegue, Catarina;
    • Coll, Monica;
    • Pérez-Serra, Alexandra;
    • Mates, Jesus;
    • Picó, Ferran;
    • Iglesias, Anna;
    • Brugada, Ramon
    Publication type:
    Article
    9
    10
    11

    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

    Published in:
    PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181465
    By:
    • Mademont-Soler, Irene;
    • Mates, Jesus;
    • Yotti, Raquel;
    • Espinosa, Maria Angeles;
    • Pérez-Serra, Alexandra;
    • Fernandez-Avila, Ana Isabel;
    • Coll, Monica;
    • Méndez, Irene;
    • Iglesias, Anna;
    • del Olmo, Bernat;
    • Riuró, Helena;
    • Cuenca, Sofía;
    • Allegue, Catarina;
    • Campuzano, Oscar;
    • Picó, Ferran;
    • Ferrer-Costa, Carles;
    • Álvarez, Patricia;
    • Castillo, Sergio;
    • Garcia-Pavia, Pablo;
    • Gonzalez-Lopez, Esther
    Publication type:
    Article
    12
    13
    14
    15
    16

    Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

    Published in:
    PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132888
    By:
    • 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
    Publication type:
    Article
    17
    18
    19
    20

    Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2475
    By:
    • Mademont‐Soler, Irene;
    • Esteba‐Castillo, Susanna;
    • Jiménez‐Xifra, Aida;
    • Alemany, Berta;
    • Ribas‐Vidal, Núria;
    • Cutillas, Maria;
    • Coll, Mònica;
    • Pinsach, Mel·lina;
    • Pagans, Sara;
    • Alcalde, Mireia;
    • Viñas‐Jornet, Marina;
    • Montero‐Vale, Mercedes;
    • de Castro‐Miró, Marta;
    • Rodríguez, Jairo;
    • Armengol, Lluís;
    • Queralt, Xavier;
    • Obón, María
    Publication type:
    Article
    21

    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
    22

    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