|
1
|
Pearson GD, Devereux R, Loeys B, Maslen C,
Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, et
al: Report of the national heart, lung, and blood institute and
national Marfan foundation working group on research in Marfan
syndrome and related disorders. Circulation. 118:785–791. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Judge DP and Dietz HC: Marfan's syndrome.
Lancet. 366:1965–1976. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Collod-Béroud G, Le Bourdelles S, Ades L,
Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A,
Hyland JC, et al: Update of the UMD-FBN1 mutation database and
creation of an FBN1 polymorphism database. Hum Mutat. 22:199–208.
2003. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Meng B, Li H, Yang T, Huang S, Sun X and
Yuan H: Identification of a novel FBN1 gene mutation in a Chinese
family with Marfan syndrome. Mol Vis. 17:2421–2427. 2011.PubMed/NCBI
|
|
5
|
Ammash NM, Sundt TM and Connolly HM:
Marfan syndrome-diagnosis and management. Curr Probl Cardiol.
33:7–39. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Dormand H and Mohiaddin RH: Cardiovascular
magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson.
15:332013. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Dong J, Bu J, Du W, Li Y, Jia Y, Li J,
Meng X, Yuan M, Peng X, Zhou A and Wang L: A new novel mutation in
FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
Mol Vis. 18:81–86. 2012.PubMed/NCBI
|
|
8
|
El-Aleem AA, Karck M, Haverich A,
Schmidtke J and Arslan-Kirchner M: Identification of 9 novel FBN1
mutations in German patients with Marfan syndrome. Hum Mutat.
14:1811999. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
De Paepe A, Devereux RB, Dietz HC,
Hennekam RC and Pyeritz RE: Revised diagnostic criteria for the
Marfan syndrome. Am J Med Genet. 62:417–426. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Nijbroek G, Sood S, Mclntosh I, Francomano
CA, Bull E, Pereira L, Ramirez F, Pyeritz RE and Dietz HC: Fifteen
novel FBN1 mutations causing Marfan syndrome detected by
heteroduplex analysis of genomic amplicons. Am J Hum Genet.
57:8–21. 1995.PubMed/NCBI
|
|
11
|
Morse RP, Rockenmacher S, Pyeritz RE,
Sanders SP, Bieber FR, Lin A, MacLeod P, Hall B and Graham JM Jr:
Diagnosis and management of infantile marfan syndrome. Pediatrics.
86:888–895. 1990.PubMed/NCBI
|
|
12
|
Brown OR, DeMots H, Kloster FE, Roberts A,
Menashe VD and Beals RK: Aortic root dilatation and mitral valve
prolapse in Marfan's syndrome: An ECHOCARDIOgraphic study.
Circulation. 52:651–657. 1975. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Sisk HE, Zahka KG and Pyeritz RE: The
Marfan syndrome in early childhood: Analysis of 15 patients
diagnosed at less than 4 years of age. Am J Cardiol. 52:353–358.
1983. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Comeglio P, Johnson P, Arno G, Brice G,
Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A and Child A:
The importance of mutation detection in Marfan syndrome and
Marfan-related disorders: Report of 193 FBN1 mutations. Hum Mutat.
28:9282007. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Chung BH, Lam ST, Tong TM, Li SY, Lun KS,
Chan DH, Fok SF, Or JS, Smith DK, Yang W and Lau YL: Identification
of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan
syndrome or Marfan-like phenotypes. Am J Med Genet A.
149A:1452–1459. 2009. View Article : Google Scholar : PubMed/NCBI
|
