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Items: 1 to 20 of 102

1.

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Landis BJ, Schubert JA, Lai D, Jegga AG, Shikany AR, Foroud T, Ware SM, Hinton RB.

J Cardiovasc Transl Res. 2017 Aug;10(4):423-432. doi: 10.1007/s12265-017-9753-1. Epub 2017 May 26.

2.

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

Schubert JA, Landis BJ, Shikany AR, Hinton RB, Ware SM.

Am J Med Genet A. 2016 May;170A(5):1288-94. doi: 10.1002/ajmg.a.37568. Epub 2016 Feb 7.

3.

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.

Keravnou A, Bashiardes E, Michailidou K, Soteriou M, Moushi A, Cariolou M.

BMC Med Genet. 2018 Dec 7;19(1):208. doi: 10.1186/s12881-018-0728-0.

4.

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC.

Trends Cardiovasc Med. 2014 Feb;24(2):53-60. doi: 10.1016/j.tcm.2013.06.004. Epub 2013 Aug 15. Review.

5.

Familial patterns of thoracic aortic aneurysms.

Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, Hammond GL, Kopf GS, Elefteriades JA.

Arch Surg. 1999 Apr;134(4):361-7.

PMID:
10199307
6.

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns.

Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA.

Ann Thorac Surg. 2006 Oct;82(4):1400-5.

PMID:
16996941
7.

Familial aortic disease and a large duplication in chromosome 16p13.1.

Erhart P, Brandt T, Straub BK, Hausser I, Hentze S, Böckler D, Grond-Ginsbach C.

Mol Genet Genomic Med. 2018 May;6(3):441-445. doi: 10.1002/mgg3.371. Epub 2018 Feb 14.

8.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium, Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM.

Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31.

9.

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.

Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.

10.

Practical genetics of thoracic aortic aneurysm.

Elefteriades JA, Pomianowski P.

Prog Cardiovasc Dis. 2013 Jul-Aug;56(1):57-67. doi: 10.1016/j.pcad.2013.06.002. Review.

PMID:
23993238
11.

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

12.

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.

Keramati AR, Sadeghpour A, Farahani MM, Chandok G, Mani A.

BMC Med Genet. 2010 Oct 11;11:143. doi: 10.1186/1471-2350-11-143.

13.

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M.

Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.

PMID:
25046559
14.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A.

World J Gastroenterol. 2015 Apr 14;21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136.

15.

Paradigm for Detecting Silent Thoracic Aneurysm Disease.

Elefteriades JA, Ziganshin BA.

Semin Thorac Cardiovasc Surg. 2016 Winter;28(4):776-782. doi: 10.1053/j.semtcvs.2016.10.006. Epub 2016 Oct 14. Review.

PMID:
28417864
16.

The genetic basis for aortic aneurysmal disease.

Saratzis A, Bown MJ.

Heart. 2014 Jun;100(12):916-22. doi: 10.1136/heartjnl-2013-305130. Review.

PMID:
24842835
17.

Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin.

Ruddy JM, Jones JA, Ikonomidis JS.

Prog Cardiovasc Dis. 2013 Jul-Aug;56(1):68-73. doi: 10.1016/j.pcad.2013.04.002. Epub 2013 May 15. Review.

18.

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.

Tortora G, Wischmeijer A, Berretta P, Alfonsi J, Di Marco L, Barbieri A, Marconi C, Isidori F, Rossi C, Leone O, Di Bartolomeo R, Seri M, Pacini D.

Interact Cardiovasc Thorac Surg. 2017 Nov 1;25(5):813-817. doi: 10.1093/icvts/ivx242.

PMID:
29049801
19.

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó G, Huguet F, Gut M, Laurie S, Gut I, Carracedo Á, Evangelista A, Brion M.

Eur J Clin Invest. 2016 Sep;46(9):787-94. doi: 10.1111/eci.12662. Epub 2016 Aug 18.

PMID:
27442293
20.

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.

Han Q, Zhang W, Liu C, Zhou M, Ran F, Yi L, Sun X, Liu Z.

Mol Med Rep. 2017 Nov;16(5):6620-6625. doi: 10.3892/mmr.2017.7410. Epub 2017 Aug 31.

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