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Page 1
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Lamounier Junior A, Guitián González A, Rodríguez Vilela A, Repáraz Andrade A, Rubio Alcaide Á, Berta Sousa A, Benito López C, Alonso García D, Fernández Ferro G, Cruz I, Cárdenas Reyes IJ, Salazar-Mendiguchía García J, Larrañaga-Moreira JM, Ochoa JP, Palomino-Doza J, de la Higuera Romero L, Nicolás Cicerchia M, Restrepo Córdoba MA, Peña-Peña ML, Noël Brögger M, Loureiro M, Mogollón Jiménez MV, Bilbao Quesada R, Franco Gutiérrez R, García Hernández S, Ripoll-Vera T, Fernández X, Azevedo O, García Pavía P, Lopes LR, Ortiz M, Brito D, Barriales-Villa R, Monserrat Iglesias L. Lamounier Junior A, et al. Rev Esp Cardiol (Engl Ed). 2022 Mar;75(3):242-250. doi: 10.1016/j.rec.2021.01.001. Epub 2021 Feb 26. Rev Esp Cardiol (Engl Ed). 2022. PMID: 33642254 English, Spanish.
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M, Maneiro E, Lamounier Junior A, Fernández-Burriel M, Sánchez Giralt S, Martínez-Carapeto A, Cazón L, Santiago E, Ochoa JP, McKenna WJ, Santomé L, Monserrat L. Torrado M, et al. Among authors: lamounier junior a. Sci Rep. 2022 May 4;12(1):7284. doi: 10.1038/s41598-022-11159-y. Sci Rep. 2022. PMID: 35508642 Free PMC article.
MYH7 p.Glu903Gln Is a Pathogenic Variant Associated With Hypertrophic Cardiomyopathy.
Dias GM, Lamounier Júnior A, Seifert M, Barájas-Martinez H, Barr D, Sternick EB, Medina-Acosta E, Campos de Carvalho AC, Cruz Filho FES. Dias GM, et al. Among authors: lamounier junior a. Circ Genom Precis Med. 2021 Oct;14(5):e003476. doi: 10.1161/CIRCGEN.121.003476. Epub 2021 Sep 24. Circ Genom Precis Med. 2021. PMID: 34555931 No abstract available.
Genetic Evaluation, Familial Screening and Exercise.
Stein R, Trujillo JP, Silveira ADD, Lamounier Júnior A, Iglesias LM. Stein R, et al. Among authors: lamounier junior a. Arq Bras Cardiol. 2017 Mar;108(3):263-270. doi: 10.5935/abc.20170015. Epub 2017 Mar 6. Arq Bras Cardiol. 2017. PMID: 28273199 Free PMC article. Review. No abstract available.