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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS. Ghali N, et al. Among authors: cervi e. Genet Med. 2019 Sep;21(9):2081-2091. doi: 10.1038/s41436-019-0470-9. Epub 2019 Mar 6. Genet Med. 2019. PMID: 30837697 Free article.
Management of aortic disease in children with FBN1-related Marfan syndrome.
Muiño-Mosquera L, Cervi E, De Groote K, Dewals W, Fejzic Z, Kazamia K, Mathur S, Milleron O, Mir TS, Nielsen DG, Odermarsky M, Sabate-Rotes A, van der Hulst A, Valenzuela I, Jondeau G. Muiño-Mosquera L, et al. Among authors: cervi e. Eur Heart J. 2024 Oct 14;45(39):4156-4169. doi: 10.1093/eurheartj/ehae526. Eur Heart J. 2024. PMID: 39250726 Free PMC article. Review.
Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study.
Norrish G, Rance T, Montanes E, Field E, Brown E, Bhole V, Stuart G, Uzun O, McLeod KA, Ilina M, Adwani S, Daubeney P, Delle Donne G, Linter K, Jones CB, Bharucha T, Cervi E, Kaski JP. Norrish G, et al. Among authors: cervi e. Arch Dis Child. 2022 May;107(5):450-455. doi: 10.1136/archdischild-2021-322455. Epub 2021 Oct 5. Arch Dis Child. 2022. PMID: 34610949 Free PMC article.
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. Among authors: cervi e. 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.
108 results