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Items: 4

1.

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.

J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001.

2.

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Torrado M, Maneiro E, Trujillo-Quintero JP, Evangelista A, Mikhailov AT, Monserrat L.

Biomed Res Int. 2018 May 29;2018:3536495. doi: 10.1155/2018/3536495. eCollection 2018.

3.

Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes.

Trujillo-Quintero JP, Gutiérrez-Agulló M, Ochoa JP, Martínez-Martínez JG, de Uña D, García-Fernández A.

Rev Esp Cardiol (Engl Ed). 2019 Feb;72(2):176-178. doi: 10.1016/j.rec.2017.12.021. Epub 2018 Apr 9. English, Spanish. No abstract available.

PMID:
29650450
4.

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene.

Trujillo-Quintero JP, Herrera-Noreña JM, Mosquera-Rodríguez VX, Fernández-Fernández X, Vázquez-Rodríguez JM, Barriales-Villa R.

Rev Esp Cardiol (Engl Ed). 2017 Aug;70(8):679-681. doi: 10.1016/j.rec.2016.11.025. Epub 2017 Jan 20. English, Spanish. No abstract available.

PMID:
28117189

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