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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Among authors: jeunemaitre x. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.
Legrand A, Guery C, Faugeroux J, Fontaine E, Beugnon C, Gianfermi A, Loisel-Ferreira I, Verpont MC, Adham S, Mirault T, Hadchouel J, Jeunemaitre X. Legrand A, et al. Among authors: jeunemaitre x. PLoS Genet. 2022 Mar 4;18(3):e1010059. doi: 10.1371/journal.pgen.1010059. eCollection 2022 Mar. PLoS Genet. 2022. PMID: 35245290 Free PMC article.
Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.
Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Frank M, et al. Among authors: jeunemaitre x. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. J Am Coll Cardiol. 2019. PMID: 30999998 Free article.
372 results