|
1
|
Judge DP and Dietz HC: Marfan's syndrome.
Lancet. 366:1965–1976. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Radonic T, de Witte P, Groenink M, de
Bruin-Bon RA, Timmermans J, Scholte AJ, van den Berg MP, Baars MJ,
van Tintelen JP, Kempers M, et al: Critical appraisal of the
revised Ghent criteria for diagnosis of Marfan syndrome. Clin
Genet. 80:346–353. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Zhao F, Pan X, Zhao K and Zhao C: Novel
mutations of fibrillin-1 gene correlate with different phenotypes
of Marfan syndrome in Chinese families. Mol Vis. 19:751–758.
2013.PubMed/NCBI
|
|
4
|
Boileau C, Jondeau G, Mizuguchi T and
Matsumoto N: Molecular genetics of Marfan syndrome. Curr Opin
Cardiol. 20:194–200. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Baetens M, Van Laer L, De Leeneer K,
Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H,
Lacro RV, Menten B, et al: Applying massive parallel sequencing to
molecular diagnosis of Marfan and Loeys-Dietz syndromes. Hum Mutat.
32:1053–1062. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Faivre L, Collod-Beroud G, Child A,
Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K,
Arslan-Kirchner M, et al: Contribution of molecular analyses in
diagnosing Marfan syndrome and type I fibrillinopathies: An
international study of 1009 probands. J Med Genet. 45:384–390.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Vollbrandt T, Tiedemann K, El-Hallous E,
Lin G, Brinckmann J, John H, Bätge B, Notbohm H and Reinhardt DP:
Consequences of cysteine mutations in calcium-binding epidermal
growth factor modules of fibrillin-1. J Biol Chem. 279:32924–32931.
2004. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Dietz HC, Cutting GR, Pyeritz RE, Maslen
CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ,
Curristin SM, et al: Marfan syndrome caused by a recurrent de novo
missense mutation in the fibrillin gene. Nature. 352:337–339. 1991.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Faivre L, Collod-Beroud G, Loeys BL, Child
A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K,
Arslan-Kirchner M, et al: Effect of mutation type and location on
clinical outcome in 1,013 probands with Marfan syndrome or related
phenotypes and FBN1 mutations: An international study. Am J Hum
Genet. 81:454–466. 2007. View
Article : Google Scholar : PubMed/NCBI
|
|
10
|
Cañadas V, Vilacosta I, Bruna I and Fuster
V: Marfan syndrome. Part 1: Pathophysiology and diagnosis. Nat Rev
Cardiol. 7:256–265. 2010.PubMed/NCBI
|
|
11
|
Dureau P: Pathophysiology of zonular
diseases. Curr Opin Ophthalmol. 19:27–30. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Whiteman P and Handford PA: Defective
secretion of recombinant fragments of fibrillin-1: Implications of
protein misfolding for the pathogenesis of Marfan syndrome and
related disorders. Hum Mol Genet. 12:727–737. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Werner JM, Knott V, Handford PA, Campbell
ID and Downing AK: Backbone dynamics of a cbEGF domain pair in the
presence of calcium. J Mol Biol. 296:1065–1078. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Dietz HC, Saraiva JM, Pyeritz RE, Cutting
GR and Francomano CA: Clustering of fibrillin (FBN1) missense
mutations in Marfan syndrome patients at cysteine residues in
EGF-like domains. Hum Mutat. 1:366–374. 1992. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Dietz HC, McIntosh I, Sakai LY, Corson GM,
Chalberg SC, Pyeritz RE and Francomano CA: Four novel FBN1
mutations: Significance for mutant transcript level and EGF-like
domain calcium binding in the pathogenesis of Marfan syndrome.
Genomics. 17:468–475. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Mizuguchi T, Collod-Beroud G, Akiyama T,
Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M,
Morisaki H, et al: Heterozygous TGFBR2 mutations in Marfan
syndrome. Nat Genet. 36:855–860. 2004. View
Article : Google Scholar : PubMed/NCBI
|
|
17
|
Loeys B, Nuytinck L, Delvaux I, De Bie S
and De Paepe A: Genotype and phenotype analysis of 171 patients
referred for molecular study of the fibrillin-1 gene FBN1 because
of suspected Marfan syndrome. Arch Intern Med. 161:2447–2454. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Ogawa N, Imai Y, Takahashi Y, Nawata K,
Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, et al:
Evaluating Japanese patients with the Marfan syndrome using
high-throughput microarray-based mutational analysis of fibrillin-1
gene. Am J Cardiol. 108:1801–1807. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Schrijver I, Liu W, Brenn T, Furthmayr H
and Francke U: Cysteine substitutions in epidermal growth
factor-like domains of fibrillin-1: Distinct effects on biochemical
and clinical phenotypes. Am J Hum Genet. 65:1007–1020. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Tiecke F, Katzke S, Booms P, Robinson PN,
Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner
RE, et al: Classic, atypically severe and neonatal Marfan syndrome:
Twelve mutations and genotype-phenotype correlations in FBN1 exons
24–40. Eur J Hum Genet. 9:13–21. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Pepe G, Lapini I, Evangelisti L, Attanasio
M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M,
Porciani MC, et al: Is ectopia lentis in some cases a mild
phenotypic expression of Marfan syndrome? Need for a long-term
follow-up. Mol Vis. 13:2242–2247. 2007.PubMed/NCBI
|
