Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
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
Published in BMC medical genetics (30.04.2010)
Published in BMC medical genetics (30.04.2010)
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Journal Article
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr, Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo
Published in Heart (British Cardiac Society) (01.09.2020)
Published in Heart (British Cardiac Society) (01.09.2020)
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Journal Article
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
García-Giustiniani, Diego, Arad, Michael, Ortíz-Genga, Martín, Barriales-Villa, Roberto, Fernández, Xusto, Rodríguez-García, Isabel, Mazzanti, Andrea, Veira, Elena, Maneiro, Emilia, Rebolo, Paula, Lesende, Iván, Cazón, Laura, Freimark, Dov, Gimeno-Blanes, Juan Ramón, Seidman, Christine, Seidman, Jonathan, McKenna, William, Monserrat, Lorenzo
Published in Heart (British Cardiac Society) (01.07.2015)
Published in Heart (British Cardiac Society) (01.07.2015)
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Journal Article
Phenotype and prognostic correlations of the converter region mutations affecting the [beta] myosin heavy chain
Garcia-Giustiniani, Diego, Arad, Michael, Ortiz-Genga, Martin, Barriales-Villa, Roberto, Fernandez, Xusto, Rodriguez-Garcia, Isabel, Mazzanti, Andrea, Veira, Elena, Maneiro, Emilia, Rebolo, Paula, Lesende, Ivan, Cazón, Laura, Freimark, Dov, Gimeno-Blanes, Juan Ramón, Seidman, Christine, Seidman, Jonathan, McKenna, William, Monserrat, Lorenzo
Published in Heart (British Cardiac Society) (01.07.2015)
Published in Heart (British Cardiac Society) (01.07.2015)
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Journal Article
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic
Rodriguez-Garcia, 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
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic
Rodriguez-Garcia, 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
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy
Ortiz, Martín F, Rodríguez-García, María Isabel, Hermida-Prieto, Manuel, Fernández, Xusto, Veira, Elena, Barriales-Villa, Roberto, Castro-Beiras, Alfonso, Monserrat, Lorenzo
Published in Revista española de cardiologia (01.05.2009)
Published in Revista española de cardiologia (01.05.2009)
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Journal Article
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic
Rodriguez-Garcia, 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
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic
Rodriguez-Garcia, 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
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
A Homozygous MYBPC3 Gene Mutation Associated With a Severe Phenotype and a High Risk of Sudden Death in a Family With Hypertrophic Cardiomyopathy
Ortiz, Martín F., Rodríguez-García, María Isabel, Hermida-Prieto, Manuel, Fernández, Xusto, Veira, Elena, Barriales-Villa, Roberto, Castro-Beiras, Alfonso, Monserrat, Lorenzo
Published in Revista española de cardiología (English ed.) (01.05.2009)
Published in Revista española de cardiología (English ed.) (01.05.2009)
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Journal Article
Mutación en homocigosis en el gen MYBPC3 asociada a fenotipos severos y alto riesgo de muerte súbita en una familia con miocardiopatía hipertrófica
Ortiz, Martín F, Isabel Rodríguez-García, María, Hermida-Prieto, Manuel, Fernández, Xusto, Veira, Elena, Barriales-Villa, Roberto, Castro-Beiras, Alfonso, Monserrat, Lorenzo
Published in Revista española de cardiologia (01.05.2009)
Published in Revista española de cardiologia (01.05.2009)
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Journal Article