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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.
Clin Chim Acta. 2014.
PMID: 25046559
PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó G, Huguet F, Gut M, Laurie S, Gut I, Carracedo Á, Evangelista A, Brion M.
Gago-Díaz M, et al.
Eur J Clin Invest. 2016 Sep;46(9):787-94. doi: 10.1111/eci.12662. Epub 2016 Aug 18.
Eur J Clin Invest. 2016.
PMID: 27442293
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.
Gago-Díaz M, Ramos-Luis E, Zoppis S, Zorio E, Molina P, Braza-Boïls A, Giner J, Sobrino B, Amigo J, Blanco-Verea A, Carracedo Á, Brion M.
Gago-Díaz M, et al.
Int J Legal Med. 2017 Sep;131(5):1211-1219. doi: 10.1007/s00414-017-1583-9. Epub 2017 Apr 8.
Int J Legal Med. 2017.
PMID: 28391405
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The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.
Gago-Díaz M, Brion M, Gallego P, Calvo F, Robledo-Carmona J, Saura D, Sánchez V, Bermejo J, Sevilla T, Newton-Cheh C, Carracedo Á, Muehlschlegel JD, García-Dorado D, Body SC, Evangelista A.
Gago-Díaz M, et al.
J Mol Cell Cardiol. 2017 Jan;102:3-9. doi: 10.1016/j.yjmcc.2016.11.012. Epub 2016 Nov 25.
J Mol Cell Cardiol. 2017.
PMID: 27894865
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