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Items: 11


Exome sequencing identified new mutations in a Marfan syndrome family.

Li G, Yu J, Wang K, Wang B, Wang M, Zhang S, Qin S, Yu Z.

Diagn Pathol. 2014 Jan 31;9:25. doi: 10.1186/1746-1596-9-25.


Effect of angiotensin II receptor blocker on experimental periodontitis in a mouse model of Marfan syndrome.

Suda N, Moriyama K, Ganburged G.

Infect Immun. 2013 Jan;81(1):182-8. doi: 10.1128/IAI.00886-12.


Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Quarto N, Leonard B, Li S, Marchand M, Anderson E, Behr B, Francke U, Reijo-Pera R, Chiao E, Longaker MT.

Proc Natl Acad Sci U S A. 2012 Jan 3;109(1):215-20. doi: 10.1073/pnas.1113442109.


The construction of transgenic and gene knockout/knockin mouse models of human disease.

Doyle A, McGarry MP, Lee NA, Lee JJ.

Transgenic Res. 2012 Apr;21(2):327-49. doi: 10.1007/s11248-011-9537-3. Review.


Periodontal disease in a patient with Prader-Willi syndrome: a case report.

Yanagita M, Hirano H, Kobashi M, Nozaki T, Yamada S, Kitamura M, Murakami S.

J Med Case Rep. 2011 Jul 28;5:329. doi: 10.1186/1752-1947-5-329.


Genes and abdominal aortic aneurysm.

Hinterseher I, Tromp G, Kuivaniemi H.

Ann Vasc Surg. 2011 Apr;25(3):388-412. doi: 10.1016/j.avsg.2010.09.004. Review.


Characterization of an in vitro model of elastic fiber assembly.

Robb BW, Wachi H, Schaub T, Mecham RP, Davis EC.

Mol Biol Cell. 1999 Nov;10(11):3595-605.


Decreased vascular smooth muscle cell density in medial degeneration of human abdominal aortic aneurysms.

López-Candales A, Holmes DR, Liao S, Scott MJ, Wickline SA, Thompson RW.

Am J Pathol. 1997 Mar;150(3):993-1007.


Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgård O, Darling RC, Abbott WM, et al.

J Clin Invest. 1993 Jun;91(6):2539-45.


Medical genetics.

Harris R.

BMJ. 1991 Oct 19;303(6808):977-9. No abstract available.

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