Perspectives on current recommendations for genetic testing in HCM

por Monserrat, Lorenzo
Publicado 2018

A novel Troponin I mutation associated with severe restrictive cardiomyopathy—a case report of a 27-year-old woman with fatigue

por Gerhardt, Teresa, Monserrat, Lorenzo, Landmesser, Ulf, Poller, Wolfgang
Publicado 2022

Effect of weaning status on animal performance and meat quality of Rubia Gallega calves

por Bispo, Esperanza, Monserrat, Lorenzo, González, Laura, Franco, Daniel, Moreno, Teresa
Publicado 2010

Subclinical Hypertrophic Cardiomyopathy in Elite Athletes: Knowledge Gaps Persist

por Chan, Fiona, Lockie, Tim, Monserrat, Lorenzo, Moon, James C., Captur, Gabriella
Publicado 2022

Differential diagnosis of thickened myocardium: an illustrative MRI review

por Méndez, Cristina, Soler, Rafaela, Rodríguez, Esther, Barriales, Roberto, Ochoa, Juan Pablo, Monserrat, Lorenzo
Publicado 2018

Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings

por Soler, Rafaela, Méndez, Cristina, Rodríguez, Esther, Barriales, Roberto, Ochoa, Juan Pablo, Monserrat, Lorenzo
Publicado 2018

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

por Torrado, Mario, Maneiro, Emilia, Trujillo-Quintero, Juan Pablo, Evangelista, Arturo, Mikhailov, Alexander T., Monserrat, Lorenzo
Publicado 2018

Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis

por Yousef, Zaheer, Elliott, Perry M., Cecchi, Franco, Escoubet, Brigitte, Linhart, Ales, Monserrat, Lorenzo, Namdar, Mehdi, Weidemann, Frank
Publicado 2013

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

por Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J., Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Publicado 2021

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

por Sheikh, Nabeel, Papadakis, Michael, Wilson, Mathew, Malhotra, Aneil, Adamuz, Carmen, Homfray, Tessa, Monserrat, Lorenzo, Behr, Elijah R., Sharma, Sanjay
Publicado 2018

Cardiotrophin-1 plasma levels are associated with the severity of hypertrophy in hypertrophic cardiomyopathy

por Monserrat, Lorenzo, López, Begoña, González, Arantxa, Hermida, Manuel, Fernández, Xusto, Ortiz, Martín, Barriales-Villa, Roberto, Castro-Beiras, Alfonso, Díez, Javier
Publicado 2011

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing

por Semenova, Anna E., Sergienko, Igor V., García-Giustiniani, Diego, Monserrat, Lorenzo, Popova, Anna B., Nozadze, Diana N., Ezhov, Marat V.
Publicado 2020

Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging

por Mateos, Jesús, Fafián-Labora, Juan, Morente-López, Miriam, Lesende-Rodriguez, Iván, Monserrat, Lorenzo, Ódena, María A., de Oliveira, Eliandre, de Toro, Javier, Arufe, María C.
Publicado 2018

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

por Torrado, Mario, Fernández, Germán, Ganoza, Christian A., Maneiro, Emilia, García, Diego, Sonicheva-Paterson, Natalia, Rosa, Isaac, Ochoa, Juan Pablo, Santomé, Luis, Vasichkina, Elena, Monserrat, Lorenzo
Publicado 2021

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

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

por Rodríguez-García, María Isabel, Monserrat, Lorenzo, Ortiz, Martín, Fernández, Xusto, Cazón, Laura, Núñez, Lucía, Barriales-Villa, Roberto, Maneiro, Emilia, Veira, Elena, Castro-Beiras, Alfonso, Hermida-Prieto, Manuel
Publicado 2010

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

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

por Torrado, Mario, Maneiro, Emilia, Lamounier Junior, Arsonval, Fernández-Burriel, Miguel, Sánchez Giralt, Sara, Martínez-Carapeto, Ana, Cazón, Laura, Santiago, Elisa, Ochoa, Juan Pablo, McKenna, William J., Santomé, Luis, Monserrat, Lorenzo
Publicado 2022

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

por Jiménez-Jáimez, Juan, Palomino Doza, Julián, Ortega, Ángeles, Macías-Ruiz, Rosa, Perin, Francesca, Rodríguez-Vázquez del Rey, M. Mar, Ortiz-Genga, Martín, Monserrat, Lorenzo, Barriales-Villa, Roberto, Blanca, Enrique, Álvarez, Miguel, Tercedor, Luis
Publicado 2016

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

por Smith, James G.W., Owen, Thomas, Bhagwan, Jamie R., Mosqueira, Diogo, Scott, Elizabeth, Mannhardt, Ingra, Patel, Asha, Barriales-Villa, Roberto, Monserrat, Lorenzo, Hansen, Arne, Eschenhagen, Thomas, Harding, Sian E., Marston, Steve, Denning, Chris
Publicado 2018