| 1 | FBN1, TAA
|
| Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
| Wang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, Guo J, Zhang Z, Dong J, Zheng GY, Cao H, Liu TS, Fu Q, Sun L, Yang BB, Tian XL.
|
| J Mol Med (Berl) 91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.
2013
|
| 2 | FTAA1, FTAA2, FTAA4, TAA, TAAD1, TAAD4
|
| Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
|
| Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW.
|
| Am J Hum Genet 87(6):743-56. Epub 2010 Nov 18.PMID: 21092924 2010
|
| 3 | FBN1, TGFBR1, TGFBR2, ECTL, MFS1, TAA, WMSAD, CCSND1, CCSND2, FRLS
|
| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
|
| Mizuguchi T, Matsumoto N.
|
| J Hum Genet 52(1):1-12. Epub 2006 Oct 24. Review. 2007
|
| 4 | FTAA2, MFS1, MFS2, FTAA1, CHAR, TFAP2B, TAA
|
| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
|
| Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X.
|
| Eur J Hum Genet 12(3):173-80. 2004
|
| 5 | ECTL, FBN1, SGS, TAA
|
| Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
|
| Hayward C, Brock DJ.
|
| Hum Mutat 10(6):415-23. Review. 1997
|
| 6 | FBN1, TAA
|
| Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
|
| Milewicz DM, et al.
|
| Circulation 94 : 2708-2711. 1996
|