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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Teixidó-Turà G, Valenzuela I, Gutiérrez L, Borregan M, del Campo M, Evangelista A. Teixidó-Turà G, et al. Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Rev Esp Cardiol (Engl Ed). 2014. PMID: 25200617 No abstract available.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF. Fernández-Álvarez P, et al. J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910934 Review.
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study.
Demolder A, Bianco L, Caruana M, Cervi E, Evangelista A, Jondeau G, Buttigieg LL, López-Sainz Á, Delmás EM, Pini A, Sabaté-Rotés A, Szöcs K, Tchitchinadze M, Teixidó-Tura G, von Kodolitsch Y, Muiño-Mosquera L, De Backer J. Demolder A, et al. Eur J Med Genet. 2022 Jun;65(6):104503. doi: 10.1016/j.ejmg.2022.104503. Epub 2022 Apr 12. Eur J Med Genet. 2022. PMID: 35427808 Free article.
Imaging modalities for the early diagnosis of acute aortic syndrome.
Evangelista A, Carro A, Moral S, Teixido-Tura G, Rodríguez-Palomares JF, Cuéllar H, García-Dorado D. Evangelista A, et al. Nat Rev Cardiol. 2013 Aug;10(8):477-86. doi: 10.1038/nrcardio.2013.92. Epub 2013 Jun 25. Nat Rev Cardiol. 2013. PMID: 23797792 Review.
76 results