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Page 1
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: sabater molina m. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino D… See abstract for full author list ➔ Walsh R, et al. Among authors: molina ms. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Hypertrophic cardiomyopathy.
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR. Santos Mateo JJ, et al. Among authors: sabater molina m. Med Clin (Barc). 2018 Jun 8;150(11):434-442. doi: 10.1016/j.medcli.2017.09.013. Epub 2017 Nov 14. Med Clin (Barc). 2018. PMID: 29150126 Review. English, Spanish.
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Akhtar MM, Lorenzini M, Cicerchia M, Ochoa JP, Hey TM, Sabater Molina M, Restrepo-Cordoba MA, Dal Ferro M, Stolfo D, Johnson R, Larrañaga-Moreira JM, Robles-Mezcua A, Rodriguez-Palomares JF, Casas G, Peña-Peña ML, Lopes LR, Gallego-Delgado M, Franaszczyk M, Laucey G, Rangel-Sousa D, Basurte M, Palomino-Doza J, Villacorta E, Bilinska Z, Limeres Freire J, Garcia Pinilla JM, Barriales-Villa R, Fatkin D, Sinagra G, Garcia-Pavia P, Gimeno JR, Mogensen J, Monserrat L, Elliott PM. Akhtar MM, et al. Among authors: sabater molina m. Circ Heart Fail. 2020 Oct;13(10):e006832. doi: 10.1161/CIRCHEARTFAILURE.119.006832. Epub 2020 Sep 23. Circ Heart Fail. 2020. PMID: 32964742 Free article.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loe… See abstract for full author list ➔ Barc J, et al. Among authors: molina ms. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
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: sabater molina m. 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.
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Siguero-Álvarez M, Salguero-Jiménez A, Grego-Bessa J, de la Barrera J, MacGrogan D, Prados B, Sánchez-Sáez F, Piñeiro-Sabarís R, Felipe-Medina N, Torroja C, Gómez MJ, Sabater-Molina M, Escribá R, Richaud-Patin I, Iglesias-García O, Sbroggio M, Callejas S, O'Regan DP, McGurk KA, Dopazo A, Giovinazzo G, Ibañez B, Monserrat L, Pérez-Pomares JM, Sánchez-Cabo F, Pendas AM, Raya A, Gimeno-Blanes JR, de la Pompa JL. Siguero-Álvarez M, et al. Among authors: sabater molina m. Circulation. 2023 Jan 3;147(1):47-65. doi: 10.1161/CIRCULATIONAHA.121.058767. Epub 2022 Nov 3. Circulation. 2023. PMID: 36325906 Free article.
Genetics of feline hypertrophic cardiomyopathy.
Gil-Ortuño C, Sebastián-Marcos P, Sabater-Molina M, Nicolas-Rocamora E, Gimeno-Blanes JR, Fernández Del Palacio MJ. Gil-Ortuño C, et al. Among authors: sabater molina m. Clin Genet. 2020 Sep;98(3):203-214. doi: 10.1111/cge.13743. Epub 2020 Apr 1. Clin Genet. 2020. PMID: 32215921 Review.
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Webster G, Jansen M, Remior P, Rasmussen TB, Sabater-Molina M, Barriales-Villa R, Girolami F, Cesar S, Fuentes-Cañamero ME, Alvarez García-Rovés R, Wahbi K, Limeres J, Kubanek M, Slieker MG, Sarquella-Brugada G, Abrams DJ, Dooijes D, Domínguez F, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: sabater molina m. J Am Heart Assoc. 2024 Nov 5;13(21):e036208. doi: 10.1161/JAHA.124.036208. Epub 2024 Nov 4. J Am Heart Assoc. 2024. PMID: 39494569 Free PMC article.
Genetic Factors Involved in Cardiomyopathies and in Cancer.
Sabater-Molina M, Navarro-Peñalver M, Muñoz-Esparza C, Esteban-Gil Á, Santos-Mateo JJ, Gimeno JR. Sabater-Molina M, et al. J Clin Med. 2020 Jun 2;9(6):1702. doi: 10.3390/jcm9061702. J Clin Med. 2020. PMID: 32498335 Free PMC article. Review.
49 results