Late‐onset severe long QT syndrome

بواسطة Asatryan, Babken, Schaller, André, Bartholdi, Deborah, Medeiros‐Domingo, Argelia
الحاوية / القاعدة Ann Noninvasive Electrocardiol (2017)

Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report

بواسطة Costa, Sarah, Pons, Elisa, Medeiros-Domingo, Argelia, Saguner, Ardan M
الحاوية / القاعدة Eur Heart J Case Rep (2021)

Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series

بواسطة Tester, David J., Medeiros-Domingo, Argelia, Will, Melissa L., Ackerman, Michael J.
منشور في 2011

Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

بواسطة Bianchi, Beatrice, Ozhathil, Lijo Cherian, Medeiros-Domingo, Argelia, Gollob, Michael H., Abriel, Hugues
الحاوية / القاعدة Front Physiol (2018)

Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

بواسطة Tester, David J., Medeiros-Domingo, Argelia, Will, Melissa L., Haglund, Carla M., Ackerman, Michael J.
منشور في 2012

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

بواسطة Neubauer, Jacqueline, Lecca, Maria Rita, Russo, Giancarlo, Bartsch, Christine, Medeiros-Domingo, Argelia, Berger, Wolfgang, Haas, Cordula
الحاوية / القاعدة Eur J Hum Genet (2017)

Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports

بواسطة Costa, Sarah, Gasperetti, Alessio, Medeiros-Domingo, Argelia, Akdis, Deniz, Brunckhorst, Corinna, Saguner, Ardan M., Duru, Firat
الحاوية / القاعدة J Clin Med (2020)

Loss-of-Function Mutations in the KCNJ8-Encoded Kir6.1 K(ATP) Channel and Sudden Infant Death Syndrome

بواسطة Tester, David J., Tan, Bi-Hua, Medeiros-Domingo, Argelia, Song, Chunhua, Makielski, Jonathan C., Ackerman, Michael J.
منشور في 2011

Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex

بواسطة Ueda, Kazuo, Valdivia, Carmen, Medeiros-Domingo, Argelia, Tester, David J., Vatta, Matteo, Farrugia, Gianrico, Ackerman, Michael J., Makielski, Jonathan C.
منشور في 2008

Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation

بواسطة Valdivia, Carmen R., Medeiros-Domingo, Argelia, Ye, Bin, Shen, Win-Kuang, Algiers, Timothy J., Ackerman, Michael J., Makielski, Jonathan C.
منشور في 2010

Unique Mixed Phenotype and Unexpected Functional Effect Revealed by Novel Compound Heterozygosity Mutations Involving SCN5A

بواسطة Medeiros-Domingo, Argelia, Tan, Bi-Hua, Torres, Pedro Iturralde, Tester, David J., Luna, Teresa Tusié, Makielski, Jonathan C., Ackerman, Michael J.
منشور في 2009

Sudden Infant Death Syndrome-Associated Mutations in the Sodium Channel Beta Subunits

بواسطة Tan, Bi-Hua, Pundi, Kavitha N, Van Norstrand, David W, Valdivia, Carmen R, Tester, David J, Medeiros-Domingo, Argelia, Makielski, Jonathan C., Ackerman, Michael J.
منشور في 2010

Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outco...

بواسطة Akdis, Deniz, Saguner, Ardan M., Shah, Khooshbu, Wei, Chuanyu, Medeiros-Domingo, Argelia, von Eckardstein, Arnold, Lüscher, Thomas F., Brunckhorst, Corinna, Chen, H.S. Vincent, Duru, Firat
الحاوية / القاعدة Eur Heart J (2017)

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

بواسطة Tan, Bi-Hua, Iturralde-Torres, Pedro, Medeiros-Domingo, Argelia, Nava, Santiago, Tester, David J, Valdivia, Carmen R., Tusié-Luna, Teresa, Ackerman, Michael J., Makielski, Jonathan C.
منشور في 2007

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

بواسطة Cheng, Jianding, Norstrand, David W. Van, Medeiros-Domingo, Argelia, Tester, David J., Valdivia, Carmen R., Tan, Bi-Hua, Vatta, Matteo, Makielski, Jonathan C., Ackerman, Michael J.
منشور في 2011

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant

بواسطة Costa, Sarah, Medeiros-Domingo, Argelia, Gasperetti, Alessio, Breitenstein, Alexander, Steffel, Jan, Guidetti, Federica, Flammer, Andreas J., Odening, Katja E., Ruschitzka, Frank, Duru, Firat, Saguner, Ardan M.
الحاوية / القاعدة Cardiol J (2021)

Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorph...

بواسطة Medeiros-Domingo, Argelia, Bhuiyan, Zahurul A., Tester, David J., Hofman, Nynke, Bikker, Hennie, van Tintelen, J Peter, Mannens, Marcel M.A.M, Wilde, Arthur A.M., Ackerman, Michael J.
منشور في 2009

Spectrum and Prevalence of Mutations Involving BrS1-12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Geneti...

بواسطة Crotti, Lia, Kellen, Cherisse A., Tester, David J., Castelletti, Silvia, Giudicessi, John R., Torchio, Margherita, Medeiros-Domingo, Argelia, Simone, Savastano, Will, Melissa L, Dagradi, Federica, Schwartz, Peter J., Ackerman, Michael J.
منشور في 2012

Sports-related sudden cardiac deaths in the young population of Switzerland

بواسطة Asatryan, Babken, Vital, Cristina, Kellerhals, Christoph, Medeiros-Domingo, Argelia, Gräni, Christoph, Trachsel, Lukas D., Schmied, Christian M., Saguner, Ardan M., Eser, Prisca, Herzig, David, Bolliger, Stephan, Michaud, Katarzyna, Wilhelm, Matthias
الحاوية / القاعدة PLoS One (2017)

α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current

بواسطة Cheng, Jianding, Van Norstrand, David W., Medeiros-Domingo, Argelia, Valdivia, Carmen, Tan, Bi-hua, Ye, Bin, Kroboth, Stacie, Vatta, Matteo, Tester, David J., January, Craig T., Makielski, Jonathan C., Ackerman, Michael J.
منشور في 2009