Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Anna Iglesias"'
Autor:
Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon Brugada
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0297914 (2024)
Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often
Externí odkaz:
https://doaj.org/article/8d0f7a2faeb94c2782f017309a271ac0
Autor:
Alexandra Pérez-Serra, Rocío Toro, Estefanía Martinez-Barrios, Anna Iglesias, Anna Fernandez-Falgueras, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Bernat del Olmo, Ferran Picó, Laura Lopez, Elena Arbelo, Sergi Cesar, Coloma Tiron de Llano, Alipio Mangas, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 7, p 3807 (2024)
Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the cause and for the early identification of carriers at ris
Externí odkaz:
https://doaj.org/article/6b47b07d738b4660af7c8147b2ee20e1
Publikováno v:
Reviews in Cardiovascular Medicine, Vol 25, Iss 2, p 40 (2024)
Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitr
Externí odkaz:
https://doaj.org/article/90ff7725638d4235bc2c09af0f6890ca
Autor:
Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmulè, Mireia Alcalde, Laura Lopez, Ferran Pico, Rubén Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-García, Jessica Exposito-Escudero, Carlos Ortez, Andrés Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenot
Externí odkaz:
https://doaj.org/article/2e963c1eaf3740048e1406c93f7e7001
Publikováno v:
Horticulturae, Vol 9, Iss 3, p 394 (2023)
Olive (Olea europaea L.) fruit and derived products play a pivotal role in the Mediterranean diet, to which they contribute their gastronomic value and their health-promoting properties. The fruit cuticle constitutes the interface between the plant a
Externí odkaz:
https://doaj.org/article/c3461f2496424f4984805e1d346b5656
Autor:
Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, Mireia Alcalde
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12640 (2022)
Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring
Externí odkaz:
https://doaj.org/article/246be2ae4f0747c8a9807b7928f8391c
Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome
Autor:
Simone Grassi, Oscar Campuzano, Mònica Coll, Francesca Cazzato, Anna Iglesias, Francesco Ausania, Francesca Scarnicci, Georgia Sarquella-Brugada, Josep Brugada, Vincenzo Arena, Antonio Oliva, Ramon Brugada
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11666 (2022)
Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated w
Externí odkaz:
https://doaj.org/article/db69fd7c8f7b48559698a42f22c1459b
Publikováno v:
Horticulturae, Vol 8, Iss 10, p 872 (2022)
The olive tree (Olea europaea L.) has been cultivated around the Mediterranean basin since ancient times, ‘Arbequina’ being one of the most widely grown varieties. To improve the knowledge on ripening-related firmness changes in olive fruit, cell
Externí odkaz:
https://doaj.org/article/bcd0cffd3d95433aa75485263b70706f
Autor:
Georgia Sarquella-Brugada, Oscar García-Algar, María Dolores Zambrano, Anna Fernández-Falgueres, Sebastian Sailer, Sergi Cesar, Giorgia Sebastiani, Julio Martí-Almor, Esther Aurensanz, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Mónica Coll, Alexandra Pérez-Serra, Bernat del Olmo, Victoria Fiol, Anna Iglesias, Carles Ferrer-Costa, Marta Puigmulé, Laura Lopez, Ferran Pico, Elena Arbelo, Paloma Jordà, Josep Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic meas
Externí odkaz:
https://doaj.org/article/63da0e5c5568477e94cc67f8aa6d8707
Autor:
Mel·lina Pinsach-Abuin, Bernat del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans
Publikováno v:
Cell Reports Medicine, Vol 2, Iss 4, Pp 100250- (2021)
Summary: Genome-wide association studies (GWASs) are instrumental in identifying loci harboring common single-nucleotide variants (SNVs) that affect human traits and diseases. GWAS hits emerge in clusters, but the focus is often on the most significa
Externí odkaz:
https://doaj.org/article/6c838ad5069a44029f4b3ea3f35643c1