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Prognostic implications of pathogenic truncating variants in the TTN gene.
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.
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: lamounier a jr.
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.
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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: lamounier a.
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.
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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: lamounier a jr.
Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25.
Heart. 2020.
PMID: 32451364
Free PMC article.
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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.
Moosa S, et al. Among authors: lamounier a jr.
Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.
Am J Hum Genet. 2019.
PMID: 31564437
Free PMC article.
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Bilateral patellar agenesis in dog: A case report.
Lage MHH, Pozavski JAR, Lamounier AR, de Melo EG.
Lage MHH, et al. Among authors: lamounier ar.
Anat Histol Embryol. 2023 Mar;52(2):197-203. doi: 10.1111/ahe.12871. Epub 2022 Oct 5.
Anat Histol Embryol. 2023.
PMID: 36197313
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Cardiac Chagas Disease: MMPs, TIMPs, Galectins, and TGF-β as Tissue Remodelling Players.
da Costa AWF, do Carmo Neto JR, Braga YLL, Silva BA, Lamounier AB, Silva BO, Dos Reis MA, de Oliveira FA, Celes MRN, Machado JR.
da Costa AWF, et al. Among authors: lamounier ab.
Dis Markers. 2019 Nov 25;2019:3632906. doi: 10.1155/2019/3632906. eCollection 2019.
Dis Markers. 2019.
PMID: 31885735
Free PMC article.
Review.
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