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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
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. Tran-Fadulu V, et al. Among authors: pannu h. J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542084
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Milewicz DM. Regalado ES, et al. Among authors: pannu h. Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26621581 Free PMC article.
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. LeMaire SA, et al. Among authors: pannu h. Nat Clin Pract Cardiovasc Med. 2007 Mar;4(3):167-71. doi: 10.1038/ncpcardio0797. Nat Clin Pract Cardiovasc Med. 2007. PMID: 17330129 Free PMC article.
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: pannu h. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
122 results