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Items: 1 to 20 of 131


Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.

Zhang P, Zhang E, Fan J, Gu J.

Front Biosci (Landmark Ed). 2013 Jan 1;18:305-11. Review.


Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.

Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N.

Hum Genet. 2012 Apr;131(4):591-9. doi: 10.1007/s00439-011-1105-7. Epub 2011 Oct 15.


Newly mapped gene for thoracic aortic aneurysm and dissection.

Wung SF, Aouizerat BE.

J Cardiovasc Nurs. 2004 Nov-Dec;19(6):409-16. Review.


TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.

Inamoto S, Kwartler CS, Lafont AL, Liang YY, Fadulu VT, Duraisamy S, Willing M, Estrera A, Safi H, Hannibal MC, Carey J, Wiktorowicz J, Tan FK, Feng XH, Pannu H, Milewicz DM.

Cardiovasc Res. 2010 Dec 1;88(3):520-9. doi: 10.1093/cvr/cvq230. Epub 2010 Jul 13.


Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM.

Circulation. 2005 Jul 26;112(4):513-20. Epub 2005 Jul 18.


Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

Yoo EH, Choi SH, Jang SY, Suh YL, Lee I, Song JK, Choe YH, Kim JW, Ki CS, Kim DK.

Ann Clin Lab Sci. 2010 Summer;40(3):278-84.


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.

J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.


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). 2013 Jan;91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.


Mutations in myosin light chain kinase cause familial aortic dissections.

Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM.

Am J Hum Genet. 2010 Nov 12;87(5):701-7. doi: 10.1016/j.ajhg.2010.10.006. Epub 2010 Nov 4. Erratum in: Am J Hum Genet. 2011 Apr 8;88(4):516.


Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.

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.

Am J Med Genet A. 2011 Sep;155A(9):2125-30. doi: 10.1002/ajmg.a.34050. Epub 2011 Aug 3.


A single nucleotide polymorphism in the matrix metalloproteinase 9 gene (-8202A/G) is associated with thoracic aortic aneurysms and thoracic aortic dissection.

Chen L, Wang X, Carter SA, Shen YH, Bartsch HR, Thompson RW, Coselli JS, Wilcken DL, Wang XL, LeMaire SA.

J Thorac Cardiovasc Surg. 2006 May;131(5):1045-52.


Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.

Milewicz D, Hostetler E, Wallace S, Mellor-Crummey L, Gong L, Pannu H, Guo DC, Regalado E.

J Cardiovasc Surg (Torino). 2016 Apr;57(2):172-7. Epub 2016 Feb 2. Review.


Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.

Girdauskas E, Schulz S, Borger MA, Mierzwa M, Kuntze T.

Ann Thorac Surg. 2011 May;91(5):e70-1. doi: 10.1016/j.athoracsur.2010.12.060.


Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J.

Int J Cardiol. 2013 May 10;165(2):314-21. doi: 10.1016/j.ijcard.2011.08.079. Epub 2011 Sep 19.


TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Bee KJ, Wilkes DC, Devereux RB, Basson CT, Hatcher CJ.

Circ Cardiovasc Genet. 2012 Dec;5(6):621-9. doi: 10.1161/CIRCGENETICS.112.964064. Epub 2012 Oct 24.


Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).

Disabella E, Grasso M, Gambarin FI, Narula N, Dore R, Favalli V, Serio A, Antoniazzi E, Mosconi M, Pasotti M, Odero A, Arbustini E.

Heart. 2011 Feb;97(4):321-6. doi: 10.1136/hrt.2010.204388. Epub 2011 Jan 6.


Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

Waldmüller S, Müller M, Warnecke H, Rees W, Schöls W, Walterbusch G, Ennker J, Scheffold T.

Eur J Cardiothorac Surg. 2007 Jun;31(6):970-5. Epub 2007 Apr 5.


Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation.

Risma TB, Alward WL.

JAMA Ophthalmol. 2014 Jun;132(6):778-80. doi: 10.1001/jamaophthalmol.2014.294. No abstract available.


Novel TGFBR2 and known missense SMAD3 mutations: two case reports of thoracic aortic aneurysms.

Panesi P, Foffa I, Sabina S, Ait Ali L, Andreassi MG.

Ann Thorac Surg. 2015 Jan;99(1):303-5. doi: 10.1016/j.athoracsur.2014.02.068.


Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project, Milewicz DM.

Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21.

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