Výsledky vyhledávání - "Vasiliki Vlagkouli"

Akademický článek

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study

Autor: Malena P. Pantou, Polyxeni Gourzi, Vasiliki Vlagkouli, Efstathios Papatheodorou, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis, Aris Anastasakis

Publikováno v: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

Abstract Background Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardi

Externí odkaz: https://doaj.org/article/76661f026ca443fca90eea23dffe3158

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1 The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

Autor: Satish Adwani, Ana Usano, Orhan Uzun, Elena Cervi, Toru Kubo, Sergi Cesar, Juan R. Gimeno, Ferran Gran Ipina, Robert G. Weintraub, Jens Mogensen, Anwar Baban, Lidia Ziółkowska, Lucaa Ragni, Sophie Duignan, Adrián Fernández, Ella Fiend, Zdenka Reinhardt, H Walsh, Torsten Bloch Rasmussen, Sian Chivers, Perry M. Elliott, Ingrid King, G Norrish, Georgia Sarquella-Brugada, Caroline Jones, Chiara Marrone, Ana Siles, Tara Bharucha, Terence Prendiville, Piers E.F. Daubeney, Fernando Rueda, Elena Biagini, Vasiliki Vlagkouli, Juan Pablo Kaski, Aris Anastasakis, Silvia Favilli, Constancio Medrano, Chen Qu, Alvarez Garcia-Roves Reyes, Maria Ilina, Peter Kubuš, Rumana Z Omar, Constantin-Cristian Topriceanu, Karen McLeod, FJ Castro Garcia, Drago Drago, Iacopo Olivotto, Jonathan Searle, Regina Bökenkamp, Roberto Barriales-Villa, Silvia Passantino

Publikováno v: Topriceanu, C-C, Norrish, G, Qu, C, Fiend, E, Walsh, H, Ziółkowska, L, Olivotto, I, Passantino, S, Favilli, S, Anastasakis, A, Vlagkouli, V, Weintraub, R, King, I, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Bökenkamp, R, Baban, A, Drago, D, Kubuš, P, Daubeney, P, Chivers, S, Sarquella-Brugada, G, Cesar, S, Marrone, C, Medrano, C, Garcia-Roves Reyes, A, Uzun, O, Gran Ipina, F, Castro Garcia, FJ, Gimeno, J R, Barriales-Villa, R, Rueda, F, Adwani, S, Searle, J, Bharucha, T, Siles, A, Usano, A, Rasmussen, T B, Jones, C, Kubo, T, Mogensen, J, Reinhardt, Z, Cervi, E, Elliott, P, Omar, R & Kaski, J 2021, ' 1 The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy ', Heart, vol. 107, no. Suppl. 1, A1 . https://doi.org/10.1136/heartjnl-2021-BCS.1

Introduction Sudden cardiac death is the most common cause of mortality in childhood onset hypertrophic cardiomyopathy. Identifying individuals at highest risk is therefore an essential part of clinical care but remains challenging. The 12 lead elect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02972d438d1cd6ee40bb214787515c6f
https://doi.org/10.1136/heartjnl-2021-bcs.1

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The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

Autor: Orhan Uzun, Tara Bharucha, Silvia Passantino, Fernando Rueda, Robert G. Weintraub, Piers E.F. Daubeney, H Walsh, Aris Anastasakis, Terrence Prendiville, Constancio Medrano, Chen Qu, Elena Biagini, Ferran Gran, Toru Kubo, Jonathan Searle, Reyes Alvarez Garcia-Roves, Jens Mogensen, Maria Ilina, Sian Chivers, Peter Kubuš, Adrián Fernández, Satish Adwani, Zdenka Reinhardt, Perry M. Elliott, Fabrizio Drago, Anwar Baban, Gabrielle Norrish, Luca Ragni, Ingrid King, Vasiliki Vlagkouli, Fernandez J Castro, Cristian C. Topriceanu, Georgia Sarquella-Brugada, Caroline Jones, Karen McLeod, Sergi Cesar, Roberto Barriales-Villa, Sophie Duignan, Rumana Z Omar, Silvia Favilli, Juan R. Gimeno, Juan Pablo Kaski, Chiara Marrone, Ana Usano, Elena Cervi, Iacopo Olivotto, Lidia Ziółkowska, Ana Siles, Torsten Bloch Rasmussen, Ella Field, Regina Bökenkamp

Publikováno v: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Norrish, G, Topriceanu, C, Qu, C, Field, E, Walsh, H, Ziółkowska, L, Olivotto, I, Passantino, S, Favilli, S, Anastasakis, A, Vlagkouli, V, Weintraub, R, King, I, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Bökenkamp, R, Baban, A, Drago, F, Kubuš, P, Daubeney, P E F, Chivers, S, Sarquella-Brugada, G, Cesar, S, Marrone, C, Medrano, C, Alvarez Garcia-Roves, R, Uzun, O, Gran, F, Castro, F J, Gimeno, J R, Barriales-Villa, R, Rueda, F, Adwani, S, Searle, J, Bharucha, T, Siles, A, Usano, A, Rasmussen, T B, Jones, C B, Kubo, T, Mogensen, J, Reinhardt, Z, Cervi, E, Elliott, P M, Omar, R Z & Kaski, J P 2022, ' The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy ', European Journal of Preventive Cardiology, vol. 29, no. 4, pp. 645-653 . https://doi.org/10.1093/eurjpc/zwab046
European Journal of Preventive Cardiology, 29(4), 645-653. OXFORD UNIV PRESS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Aims The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac2e879a8749ab08fbc229aa3854c27
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19329