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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: boutouyrie p. 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.
[Vascular Ehlers-Danlos syndrome].
Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN. Perdu J, et al. Among authors: boutouyrie p. Presse Med. 2006 Dec;35(12 Pt 2):1864-75. doi: 10.1016/s0755-4982(06)74919-3. Presse Med. 2006. PMID: 17159712 Review. French.
Inheritance of arterial lesions in renal fibromuscular dysplasia.
Perdu J, Boutouyrie P, Bourgain C, Stern N, Laloux B, Bozec E, Azizi M, Bonaiti-Pellié C, Plouin PF, Laurent S, Gimenez-Roqueplo AP, Jeunemaitre X. Perdu J, et al. Among authors: boutouyrie p. J Hum Hypertens. 2007 May;21(5):393-400. doi: 10.1038/sj.jhh.1002156. Epub 2007 Mar 1. J Hum Hypertens. 2007. PMID: 17330059
332 results