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HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. Caruana M, et al. Among authors: teixido tura g. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. Eur J Med Genet. 2023. PMID: 36460281 Free article.
Aortic dilatation in bicuspid aortic valve disease.
Carro A, Teixido-Tura G, Evangelista A. Carro A, et al. Rev Esp Cardiol (Engl Ed). 2012 Nov;65(11):977-81. doi: 10.1016/j.recesp.2012.04.025. Epub 2012 Sep 17. Rev Esp Cardiol (Engl Ed). 2012. PMID: 22995817 English, Spanish. No abstract available.
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer J, Bondue A, Budts W, Evangelista A, Gallego P, Jondeau G, Loeys B, Peña ML, Teixido-Tura G, van de Laar I, Verstraeten A, Roos Hesselink J. De Backer J, et al. Eur J Prev Cardiol. 2020 Sep;27(13):1423-1435. doi: 10.1177/2047487319854552. Epub 2019 Jun 11. Eur J Prev Cardiol. 2020. PMID: 31184212 Review.
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J. van de Laar IMBH, et al. Orphanet J Rare Dis. 2019 Nov 21;14(1):264. doi: 10.1186/s13023-019-1186-2. Orphanet J Rare Dis. 2019. PMID: 31752940 Free PMC article.
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.
de la Fuente-Alonso A, Toral M, Alfayate A, Ruiz-Rodríguez MJ, Bonzón-Kulichenko E, Teixido-Tura G, Martínez-Martínez S, Méndez-Olivares MJ, López-Maderuelo D, González-Valdés I, Garcia-Izquierdo E, Mingo S, Martín CE, Muiño-Mosquera L, De Backer J, Nistal JF, Forteza A, Evangelista A, Vázquez J, Campanero MR, Redondo JM. de la Fuente-Alonso A, et al. Nat Commun. 2021 May 11;12(1):2628. doi: 10.1038/s41467-021-22933-3. Nat Commun. 2021. PMID: 33976159 Free PMC article.
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