Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

por Hall, Charlotte L, Sutanto, Henry, Dalageorgou, Chrysoula, McKenna, William John, Syrris, Petros, Futema, Marta
Publicado 2018

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature

por Captur, Gabriella, Arbustini, Eloisa, Syrris, Petros, Radenkovic, Dina, O'Brien, Ben, Mckenna, William J, Moon, James C
Publicado 2018

A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

por Gehmlich, Katja, Lambiase, Pier D., Asimaki, Angeliki, Ciaccio, Edward J., Ehler, Elisabeth, Syrris, Petros, Saffitz, Jeffrey E., McKenna, William J.
Publicado 2011

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

por Lopes, Luis R, Zekavati, Anna, Syrris, Petros, Hubank, Mike, Giambartolomei, Claudia, Dalageorgou, Chrysoula, Jenkins, Sharon, McKenna, William, Plagnol, Vincent, Elliott, Perry M
Publicado 2013

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

por ALFARIH, MASHAEL, SYRRIS, PETROS, ARBUSTINI, ELOISA, AUGUSTO, JOÃO B., HUGHES, ALUN, LLOYD, GUY, LOPES, LUIS R., MOON, JAMES C., MOHIDDIN, SAIDI, CAPTUR, GABRIELLA
Publicado 2019

A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

por Andersen, Paal Skytt, Hedley, Paula Louise, Page, Stephen P., Syrris, Petros, Moolman-Smook, Johanna Catharina, McKenna, William John, Elliott, Perry Mark, Christiansen, Michael
Publicado 2012

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

por Lorenzini, Massimiliano, Norrish, Gabrielle, Field, Ella, Ochoa, Juan Pablo, Cicerchia, Marcos, Akhtar, Mohammed M., Syrris, Petros, Lopes, Luis R., Kaski, Juan Pablo, Elliott, Perry M.
Publicado 2020

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

por Gehmlich, Katja, Asimaki, Angeliki, Cahill, Thomas J., Ehler, Elisabeth, Syrris, Petros, Zachara, Elisabetta, Re, Federica, Avella, Andrea, Monserrat, Lorenzo, Saffitz, Jeffrey E., McKenna, William J.
Publicado 2010

Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations

por Protonotarios, Nikos, Anastasakis, Aris, Antoniades, Loizos, Chlouverakis, Gregory, Syrris, Petros, Basso, Cristina, Asimaki, Angeliki, Theopistou, Artemisia, Stefanadis, Christodoulos, Thiene, Gaetano, McKenna, William J., Tsatsopoulou, Adalena
Publicado 2011

It's not just the mitral valve - abnormal motion of the whole aorto-mitral apparatus occurs in both overt and subclinical hypertrophic cardiomyopathy

por Obianyo, Chinwe, Captur, Gaby, Syrris, Petros, Lopes, Luis, Patel, Vimal, Reant, Patricia, Mirabel, Mariana, Manisty, Charlotte, Bassett, Paul, Sado, Daniel, Talmud, Phillippa, Elliott, Perry M, Moon, James C
Publicado 2016

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort

por Bueno Marinas, Maria, Celeghin, Rudy, Cason, Marco, Bariani, Riccardo, Frigo, Anna Chiara, Jager, Joanna, Syrris, Petros, Elliott, Perry M., Bauce, Barbara, Thiene, Gaetano, Corrado, Domenico, Basso, Cristina, Pilichou, Kalliopi
Publicado 2020

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

por Gehmlich, Katja, Syrris, Petros, Peskett, Emma, Evans, Alison, Ehler, Elisabeth, Asimaki, Angeliki, Anastasakis, Aris, Tsatsopoulou, Adalena, Vouliotis, Apostolos-Ilias, Stefanadis, Christodoulos, Saffitz, Jeffrey E., Protonotarios, Nikos, McKenna, William J.
Publicado 2011

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

por Lopes, Luis R, Syrris, Petros, Guttmann, Oliver P, O'Mahony, Constantinos, Tang, Hak Chiaw, Dalageorgou, Chrysoula, Jenkins, Sharon, Hubank, Mike, Monserrat, Lorenzo, McKenna, William J, Plagnol, Vincent, Elliott, Perry M
Publicado 2015

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human s...

por Gomes, John, Finlay, Malcolm, Ahmed, Akbar K., Ciaccio, Edward J., Asimaki, Angeliki, Saffitz, Jeffrey E., Quarta, Giovanni, Nobles, Muriel, Syrris, Petros, Chaubey, Sanjay, McKenna, William J., Tinker, Andrew, Lambiase, Pier D.
Publicado 2012

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

por Hughes, Rebecca K., Camaioni, Claudia, Augusto, João B., Knott, Kristopher, Quinn, Ellie, Captur, Gabriella, Seraphim, Andreas, Joy, George, Syrris, Petros, Elliott, Perry M., Mohiddin, Saidi, Kellman, Peter, Xue, Hui, Lopes, Luis R., Moon, James C.
Publicado 2021

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy

por Reant, Patricia, Captur, Gabriella, Mirabel, Mariana, Nasis, Arthur, M. Sado, Daniel, Maestrini, Viviana, Castelletti, Silvia, Manisty, Charlotte, Herrey, Anna S., Syrris, Petros, Tome-Esteban, Maite, Jenkins, Sharon, Elliott, Perry M., McKenna, William J., Moon, James C.
Publicado 2015

Dynamic Conduction and Repolarisation Changes in Early Arrhythmogenic Right Ventricular Cardiomyopathy versus Benign Outflow Tract Ectopy Demonstrated by High Density Mapping & Pac...

por Finlay, Malcolm C., Ahmed, Akbar K., Sugrue, Alan, Bhar-Amato, Justine, Quarta, Giovanni, Pantazis, Antonis, Ciaccio, Edward J., Syrris, Petros, Sen-Chowdhry, Srijita, Ben-Simon, Ron, Chow, Anthony W., Lowe, Martin D., Segal, Oliver R., McKenna, William J., Lambiase, Pier D.
Publicado 2014

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

por James, Cynthia A., Jongbloed, Jan D.H., Hershberger, Ray E., Morales, Ana, Judge, Daniel P., Syrris, Petros, Pilichou, Kalliopi, Domingo, Argelia Medeiros, Murray, Brittney, Cadrin-Tourigny, Julia, Lekanne Deprez, Ronald, Celeghin, Rudy, Protonotarios, Alexandros, Asatryan, Babken, Brown, Emily, Jordan, Elizabeth, McGlaughon, Jennifer, Thaxton, Courtney, Kurtz, C. Lisa, van Tintelen, J. Peter
Publicado 2021

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

por Bugiardini, Enrico, Nunes, Andreia M., Oliveira‐Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M., Barraza‐Flores, Pamela, Pittman, Alan M., Morrow, Jasper M., Parton, Matthew, Houlden, Henry, Elliott, Perry M., Syrris, Petros, Maas, Roderick P., Akhtar, Mohammed M., Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik‐Jan, van Engelen, Baziel, Hanna, Michael G., Phadke, Rahul, Lopes, Luis R., Matthews, Emma, Burkin, Dean J.
Publicado 2022

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

por Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, van der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N. W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., van den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D. H.
Publicado 2018