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Page 1
Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach.
Ramudo-Cela L, Santana-Martínez S, García-Ramos M, Bergamino M, García-Giustiniani D, Vélez-Vieitez P, Hernández-Hernández JL, García-Ibarbia C, González-Bustos P, Ruíz-Martín P, González-Lozano J, Santomé-Collazo L, Grana-Fernandez A, Cabaleiro-Cerviño P, Ortíz M, Monserrat-Iglesias L. Ramudo-Cela L, et al. Among authors: garcia giustiniani d. Pharmacogenomics J. 2022 May;22(3):180-187. doi: 10.1038/s41397-022-00274-8. Epub 2022 Mar 31. Pharmacogenomics J. 2022. PMID: 35361995
Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña ML, Ochoa JP, Barriales-Villa R, Cicerchia M, Palomino-Doza J, Salazar-Mendiguchia J, Lamounier A, Trujillo JP, Garcia-Giustiniani D, Fernandez X, Ortiz-Genga M, Monserrat L, Crespo-Leiro MG. Peña-Peña ML, et al. Among authors: garcia giustiniani d. Med Clin (Barc). 2021 May 21;156(10):485-495. doi: 10.1016/j.medcli.2020.05.067. Epub 2020 Aug 19. Med Clin (Barc). 2021. PMID: 32826072 English, Spanish.
Prognostic implications of pathogenic truncating variants in the TTN gene.
Peña-Peña ML, Ochoa JP, Barriales-Villa R, Cicerchia M, Palomino-Doza J, Salazar-Mendiguchía J, Lamounier A, Trujillo JP, Garcia-Giustiniani D, Fernandez X, Ortiz-Genga M, Monserrat L, Crespo-Leiro MG. Peña-Peña ML, et al. Among authors: garcia giustiniani d. Int J Cardiol. 2020 Oct 1;316:180-183. doi: 10.1016/j.ijcard.2020.04.086. Epub 2020 May 1. Int J Cardiol. 2020. PMID: 32371228 Free article.
Genetics of Dyslipidemia.
García-Giustiniani D, Stein R. García-Giustiniani D, et al. Arq Bras Cardiol. 2016 May;106(5):434-8. doi: 10.5935/abc.20160074. Arq Bras Cardiol. 2016. PMID: 27305287 Free PMC article. No abstract available.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L. Ochoa JP, et al. Among authors: garcia giustiniani d. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Salazar-Mendiguchía J, Barriales-Villa R, Lopes LR, Ochoa JP, Rodríguez-Vilela A, Palomino-Doza J, Larrañaga-Moreira JM, Cicerchia M, Cárdenas-Reyes I, García-Giustiniani D, Brögger N, Fernández G, García S, Santiago L, Vélez P, Ortiz-Genga M, Elliott PM, Monserrat L. Salazar-Mendiguchía J, et al. Among authors: garcia giustiniani d. Eur J Med Genet. 2020 Dec;63(12):104079. doi: 10.1016/j.ejmg.2020.104079. Epub 2020 Oct 7. Eur J Med Genet. 2020. PMID: 33035702
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L. García-Giustiniani D, et al. Heart. 2015 Jul;101(13):1047-53. doi: 10.1136/heartjnl-2014-307205. Epub 2015 May 2. Heart. 2015. PMID: 25935763 Free PMC article.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Among authors: garcia giustiniani d. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
16 results