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Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
Piqueras-Flores J, Villacorta-Argüelles E, Galvin J, Climent-Payá V, Escobar-López LE, Amor-Salamanca A, Garcia-Hernandez S, Esmonde S, Martínez-Del Río J, Soto-Pérez M, Garcia-Pavia P, Ochoa JP. Piqueras-Flores J, et al. Among authors: galvin j. J Med Genet. 2024 Apr 19;61(5):423-427. doi: 10.1136/jmg-2023-109413. J Med Genet. 2024. PMID: 38160043
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Amor-Salamanca A, Santana Rodríguez A, Rasoul H, Rodríguez-Palomares JF, Moldovan O, Hey TM, Delgado MG, Cuenca DL, de Castro Campos D, Basurte-Elorz MT, Macías-Ruiz R, Fuentes Cañamero ME, Galvin J, Bilbao Quesada R, de la Higuera Romero L, Trujillo-Quintero JP, García-Cruz LM, Cárdenas-Reyes I, Jiménez-Jáimez J, García-Hernández S, Valverde-Gómez M, Gómez-Díaz I, Limeres Freire J, García-Pinilla JM, Gimeno-Blanes JR, Savattis K, García-Pavía P, Ochoa JP. Amor-Salamanca A, et al. Among authors: galvin j. Circ Genom Precis Med. 2024 Apr;17(2):e004404. doi: 10.1161/CIRCGEN.123.004404. Epub 2024 Feb 14. Circ Genom Precis Med. 2024. PMID: 38353104 Free PMC article.
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.
Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡. Lotan D, et al. Among authors: galvin j. Circ Genom Precis Med. 2020 Dec;13(6):e003117. doi: 10.1161/CIRCGEN.120.003117. Epub 2020 Nov 5. Circ Genom Precis Med. 2020. PMID: 33151750
1,149 results