Zobrazeno 1 - 10
of 255
pro vyhledávání: '"Lorenzo, Monserrat"'
Publikováno v:
Genes, Vol 15, Iss 6, p 774 (2024)
Cardiomyopathies (CMs), one of the main causes of sudden death among the young population, are a heterogeneous group of myocardial diseases, usually with a genetic cause. Next-Generation Sequencing (NGS) has expanded the genes studied for CMs; howeve
Externí odkaz:
https://doaj.org/article/f56c45fe7e674d31a5cd2657441c8bf7
Autor:
Juan R. Gimeno, Iacopo Olivotto, Ana Isabel Rodríguez, Carolyn Y. Ho, Adrián Fernández, Alejandro Quiroga, Mari Angeles Espinosa, Cristina Gómez‐González, María Robledo, Lucas Tojal‐Sierra, Sharlene M. Day, Anjali Owens, Roberto Barriales‐Villa, Jose María Larrañaga, Jose Rodríguez‐Palomares, Maribel González‐del‐Hoyo, Jesús Piqueras‐Flores, Nosheen Reza, Olga Chumakova, Euan A. Ashley, Victoria Parikh, Matthew Wheeler, Daniel Jacoby, Alexandre C. Pereira, Sara Saberi, Adam S. Helms, Eduardo Villacorta, María Gallego‐Delgado, Daniel deCastro, Fernando Domínguez, Tomás Ripoll‐Vera, Esther Zorio‐Grima, José Carlos Sánchez‐Martínez, Ana García‐Álvarez, Elena Arbelo, María Victoria Mogollón, María Eugenia Fuentes‐Cañamero, Elias Grande, Carlos Peña, Lorenzo Monserrat, Neal K. Lakdawala, Dilema International Cardiomyopathy and Heart Failure Registry and international SHaRe (Sarcomeric Human Cardiomyopathy Registry) Investigators group
Publikováno v:
ESC Heart Failure, Vol 9, Iss 4, Pp 2189-2198 (2022)
Abstract Aims To describe the natural history of SARS‐CoV‐2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events. Methods and results Three hundred and five patien
Externí odkaz:
https://doaj.org/article/91483f6a810740f68b374d86c8670633
Autor:
Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband
Externí odkaz:
https://doaj.org/article/c868467e243b4073b28e6489e0a7d28c
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology
Autor:
Rameen Shakur, Juan Pablo Ochoa, Alan J. Robinson, Abhishek Niroula, Aneesh Chandran, Taufiq Rahman, Mauno Vihinen, Lorenzo Monserrat
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
Abstract The cardiac troponin T variations have often been used as an example of the application of clinical genotyping for prognostication and risk stratification measures for the management of patients with a family history of sudden cardiac death
Externí odkaz:
https://doaj.org/article/d83b655e70d2430db526ecf35be2769f
Autor:
Melina Mueller, Lilli Zwinger, Sabine Klaassen, Wolfgang Poller, Lorenzo Monserrat Iglesias, Juan Pablo Ochoa, Karin Klingel, Ulf Landmesser, Bettina Heidecker
Publikováno v:
International Journal of Cardiology: Heart & Vasculature, Vol 39, Iss , Pp 100969- (2022)
Externí odkaz:
https://doaj.org/article/8d673e50b58747d0b182dbc34f0ec969
Autor:
Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina, Lorenzo Monserrat
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)
Abstract Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous path
Externí odkaz:
https://doaj.org/article/4ac6dfad532a4107bb331639ee65c964
Autor:
James G.W. Smith, Thomas Owen, Jamie R. Bhagwan, Diogo Mosqueira, Elizabeth Scott, Ingra Mannhardt, Asha Patel, Roberto Barriales-Villa, Lorenzo Monserrat, Arne Hansen, Thomas Eschenhagen, Sian E. Harding, Steve Marston, Chris Denning
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1226-1243 (2018)
Summary: Hypertrophic cardiomyopathy (HCM) is a primary disorder of contractility in heart muscle. To gain mechanistic insight and guide pharmacological rescue, this study models HCM using isogenic pairs of human induced pluripotent stem cell-derived
Externí odkaz:
https://doaj.org/article/d20656f0844e4ad09dd21d78e80667fd
Autor:
Cristina Méndez, Rafaela Soler, Esther Rodríguez, Roberto Barriales, Juan Pablo Ochoa, Lorenzo Monserrat
Publikováno v:
Insights into Imaging, Vol 9, Iss 5, Pp 695-707 (2018)
Abstract Objectives The purpose of this article is to describe the key cardiac magnetic resonance imaging (MRI) features to differentiate hypertrophic cardiomyopathy (HCM) phenotypes from other causes of myocardial thickening that may mimic them. Con
Externí odkaz:
https://doaj.org/article/20fb960ee1814e91b0878f61e72a7698
Autor:
Rafaela Soler, Cristina Méndez, Esther Rodríguez, Roberto Barriales, Juan Pablo Ochoa, Lorenzo Monserrat
Publikováno v:
Insights into Imaging, Vol 9, Iss 6, Pp 1007-1020 (2018)
Abstract Objective The purpose of this article is to review how cardiac MRI provides the clinician with detailed information about the hypertrophic cardiomyopathy (HCM) phenotypes, assessing its morphological and functional consequences. Conclusion A
Externí odkaz:
https://doaj.org/article/ef407bbf1faa4e88acfbe0cc6bcd6142
Autor:
Wolfgang Poller, Jan Haas, Karin Klingel, Jirko Kühnisch, Martina Gast, Ziya Kaya, Felicitas Escher, Elham Kayvanpour, Franziska Degener, Bernd Opgen‐Rhein, Felix Berger, Hans‐Christian Mochmann, Carsten Skurk, Bettina Heidecker, Heinz‐Peter Schultheiss, Lorenzo Monserrat, Benjamin Meder, Ulf Landmesser, Sabine Klaassen
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 10 (2020)
Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and vari
Externí odkaz:
https://doaj.org/article/8bd6ccae61364c43bafd7be42a262834