Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

53 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
Ochoa JP, Lalaguna L, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Salas C, Roustan G, McGurk KA, Zheng SL, Barton PJR, Ware JS, Gómez-Gaviro MV, Lara-Pezzi E, Garcia-Pavia P. Ochoa JP, et al. Circ Heart Fail. 2024 Mar;17(3):e011226. doi: 10.1161/CIRCHEARTFAILURE.123.011226. Epub 2024 Mar 4. Circ Heart Fail. 2024. PMID: 38436102 Free PMC article. No abstract available.
Double somatic mosaicism in Marfan syndrome.
Carrera IA, Amor-Salamanca A, Isidro EM, Pérez-Barbeito M, Sacristán ARB, Ochoa JP. Carrera IA, et al. Among authors: ochoa jp. Am J Med Genet A. 2024 Aug 16:e63831. doi: 10.1002/ajmg.a.63831. Online ahead of print. Am J Med Genet A. 2024. PMID: 39149856
Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation.
Ochoa JP, Espinosa MÁ, Gayan-Ordas J, Fernández-Valledor A, Gallego-Delgado M, Tirón C, Lozano-Ibañez A, García-Pinilla JM, Rodríguez-Palomares JF, Larrañaga-Moreira JM, Llamas-Gómez H, Ripoll-Vera T, Braza-Boïls A, Vilches S, Méndez I, Bascompte-Claret R, García-Álvarez A, Villacorta E, Fernandez-Lozano I, Lara-Pezzi E, Garcia-Pavia P. Ochoa JP, et al. JACC Clin Electrophysiol. 2024 Jun 18:S2405-500X(24)00367-0. doi: 10.1016/j.jacep.2024.05.008. Online ahead of print. JACC Clin Electrophysiol. 2024. PMID: 39001760 Free article.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
Bermudez-Jimenez FJ, Protonotarios A, García-Hernández S, Pérez Asensio A, Rampazzo A, Zorio E, Brodehl A, Arias MA, Macías-Ruiz R, Fernández-Armenta J, Remior Perez P, Muñoz-Esparza C, Pilichou K, Bauce B, Merino JL, Moliner-Abós C, Ochoa JP, Barriales-Villa R, Garcia-Pavia P, Lopes LR, Syrris P, Corrado D, Elliott PM, McKenna WJ, Jimenez-Jaimez J. Bermudez-Jimenez FJ, et al. Among authors: ochoa jp. JACC Clin Electrophysiol. 2024 Jun;10(6):1178-1190. doi: 10.1016/j.jacep.2024.02.031. Epub 2024 May 8. JACC Clin Electrophysiol. 2024. PMID: 38727660
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.
Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, Garcia-Pavia P. Cabrera-Romero E, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2024 Apr 30;83(17):1640-1651. doi: 10.1016/j.jacc.2024.02.036. J Am Coll Cardiol. 2024. PMID: 38658103 Free article.
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: ochoa jp. 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.
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: ochoa jp. J Med Genet. 2024 Apr 19;61(5):423-427. doi: 10.1136/jmg-2023-109413. J Med Genet. 2024. PMID: 38160043
53 results