Ngā hua rapu - Medeiros‐Domingo, Argelia

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  1. 1
    Late‐onset severe long QT syndrome

    Late‐onset severe long QT syndrome mā Asatryan, Babken, Schaller, André, Bartholdi, Deborah, Medeiros‐Domingo, Argelia

    I whakaputaina 2017
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  2. 2
    Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report

    Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report mā Costa, Sarah, Pons, Elisa, Medeiros-Domingo, Argelia, Saguner, Ardan M

    I whakaputaina 2021
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  3. 3
    Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series

    Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series mā Tester, David J., Medeiros-Domingo, Argelia, Will, Melissa L., Ackerman, Michael J.

    I whakaputaina 2011
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  4. 4
    Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

    Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability mā Bianchi, Beatrice, Ozhathil, Lijo Cherian, Medeiros-Domingo, Argelia, Gollob, Michael H., Abriel, Hugues

    I whakaputaina 2018
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  5. 5
    Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

    Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing mā Tester, David J., Medeiros-Domingo, Argelia, Will, Melissa L., Haglund, Carla M., Ackerman, Michael J.

    I whakaputaina 2012
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  6. 6
    Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

    Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases mā Neubauer, Jacqueline, Lecca, Maria Rita, Russo, Giancarlo, Bartsch, Christine, Medeiros-Domingo, Argelia, Berger, Wolfgang, Haas, Cordula

    I whakaputaina 2017
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  7. 7
    Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports

    Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports mā Costa, Sarah, Gasperetti, Alessio, Medeiros-Domingo, Argelia, Akdis, Deniz, Brunckhorst, Corinna, Saguner, Ardan M., Duru, Firat

    I whakaputaina 2020
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  8. 8
    Loss-of-Function Mutations in the KCNJ8-Encoded Kir6.1 K(ATP) Channel and Sudden Infant Death Syndrome

    Loss-of-Function Mutations in the KCNJ8-Encoded Kir6.1 K(ATP) Channel and Sudden Infant Death Syndrome mā Tester, David J., Tan, Bi-Hua, Medeiros-Domingo, Argelia, Song, Chunhua, Makielski, Jonathan C., Ackerman, Michael J.

    I whakaputaina 2011
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  9. 9
    Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex

    Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex mā Ueda, Kazuo, Valdivia, Carmen, Medeiros-Domingo, Argelia, Tester, David J., Vatta, Matteo, Farrugia, Gianrico, Ackerman, Michael J., Makielski, Jonathan C.

    I whakaputaina 2008
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  10. 10
    Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation

    Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation mā Valdivia, Carmen R., Medeiros-Domingo, Argelia, Ye, Bin, Shen, Win-Kuang, Algiers, Timothy J., Ackerman, Michael J., Makielski, Jonathan C.

    I whakaputaina 2010
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  11. 11
    Unique Mixed Phenotype and Unexpected Functional Effect Revealed by Novel Compound Heterozygosity Mutations Involving SCN5A

    Unique Mixed Phenotype and Unexpected Functional Effect Revealed by Novel Compound Heterozygosity Mutations Involving SCN5A mā Medeiros-Domingo, Argelia, Tan, Bi-Hua, Torres, Pedro Iturralde, Tester, David J., Luna, Teresa Tusié, Makielski, Jonathan C., Ackerman, Michael J.

    I whakaputaina 2009
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  12. 12
    Sudden Infant Death Syndrome-Associated Mutations in the Sodium Channel Beta Subunits

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

    I whakaputaina 2010
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  13. 13
    Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome

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

    I whakaputaina 2017
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  14. 14
    A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

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

    I whakaputaina 2007
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  15. 15
    LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

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

    I whakaputaina 2011
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  16. 16
    Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant

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

    I whakaputaina 2021
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  17. 17
    Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts

    Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts mā Villarreal-Molina, Teresa, García-Ordóñez, Gabriela Paola, Reyes-Quintero, Álvaro E., Domínguez-Pérez, Mayra, Jacobo-Albavera, Leonor, Nava, Santiago, Carnevale, Alessandra, Medeiros-Domingo, Argelia, Iturralde, Pedro

    I whakaputaina 2021
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  18. 18
    The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death

    The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death mā Kovacs, Boldizsar, Winnik, Stephan, Medeiros-Domingo, Argelia, Costa, Sarah, Fu, Guan, Biskup, Saskia, Ruschitzka, Frank, Flammer, Andreas J., Tanner, Felix C., Duru, Firat, Saguner, Ardan M.

    I whakaputaina 2022
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  19. 19
    Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

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

    I whakaputaina 2009
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  20. 20
    Spectrum and Prevalence of Mutations Involving BrS1-12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing

    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... mā 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.

    I whakaputaina 2012
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