Publicacións nas que colabora con Diego Alonso García Giustiniani (17)
2023
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Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry
European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 9, Núm. 1, pp. 42-53
2022
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Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach
Pharmacogenomics Journal, Vol. 22, Núm. 3, pp. 180-187
2021
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Clinical utility of genetic testing in patients with dilated cardiomyopathy
Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495
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Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry
ESC Heart Failure, Vol. 8, Núm. 1, pp. 95-105
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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy
Journal of Biological Chemistry, Vol. 297, Núm. 1
2020
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Heart, Vol. 106, Núm. 17, pp. 1342-1348
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Prognostic implications of pathogenic truncating variants in the TTN gene
International Journal of Cardiology, Vol. 316, pp. 180-183
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The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
European Journal of Medical Genetics, Vol. 63, Núm. 12
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Verification of underlying genetic cause in a cohort of russian patients with familial hypercholesterolemia using targeted next generation sequencing
Journal of Cardiovascular Development and Disease, Vol. 7, Núm. 2
2018
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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467
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Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
Circulation, Vol. 137, Núm. 15, pp. 1595-1610
2016
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Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451
2015
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Atlas of the clinical genetics of human dilated cardiomyopathy
European Heart Journal, Vol. 36, Núm. 18, pp. 1123-1135
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Genetics of cardiomyopathies: Novel perspectives with next generation sequencing
Current Pharmaceutical Design, Vol. 21, Núm. 4, pp. 418-430
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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Heart, Vol. 101, Núm. 13, pp. 1047-1053
2014
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Utilidad del diagnóstico genético en la miocardiopatía hipertrófica de una mujer que desea ser madre: la información es clave
Revista Espanola de Cardiologia
2011
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Genética del síndrome de Marfan
Cardiocore, Vol. 46, Núm. 3, pp. 101-104