| 1 | ACTA2, LDS1A, LDS1B, TAAD4, TGFBR1, TGFBR2
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| Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
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| Regalado E, Medrek S, Tran-Fadulu V, Guo DC, Pannu H, Golabbakhsh H, Smart S, Chen JH, Shete S, Kim DH, Stern R, Braverman AC, Milewicz DM.
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| Am J Med Genet A 155A(9):2125-30. doi: 10.1002/ajmg.a.34050. Epub 2011 Aug 3.
2011
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| 2 | FTAA4, LDS1B, TGFBR1, TGFBR2
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| Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
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| Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
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| J Med Genet 46(9):607-13. Epub 2009 Jun 18.PMID: 19542084 2009
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| 3 | FTAA2, LDS1B, TAAD1
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| Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women.
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| Tran-Fadulu V, Chen JH, Lemuth D, Neichoy BT, Yuan J, Gomes N, Sparks E, Kramer LA, Guo D, Pannu H, Braverman AC, Shete S, Milewicz DM.
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| Am J Med Genet A 140(11):1196-202. 2006
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| 4 | FTAA2, LDS1B, LTBP1, LTBP2, LTBP3, LTBP4, MFAP1, MFAP2, MFAP3, MFAP4, MFAP5, TGFBR1, TGFBR2
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| The molecular genetics of Marfan syndrome and related disorders.
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| Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.
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| J Med Genet 43(10):769-87. Epub 2006 Mar 29. 2006
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| 5 | LDS1B, TGFBR2
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| Genetic basis of thoracic aortic aneurysms and aortic dissections.
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| Pannu H, Tran-Fadulu V, Milewicz DM.
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| Am J Med Genet C Semin Med Genet 139(1):10-6. 2005
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| 6 | LDS1B
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| Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
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| Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM.
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| Circulation 107(25):3184-90. Epub 2003 Jun 23. 2003
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