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Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Am J Med Genet. 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3.
Am J Med Genet. 2000.
PMID: 10756346
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C.
Collod-Béroud G, et al.
Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249.
Hum Mutat. 2003.
PMID: 12938084
Review.
Item in Clipboard
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.
Hung CC, Lin SY, Lee CN, Cheng HY, Lin CY, Chang CH, Chiu HH, Yu CC, Lin SP, Cheng WF, Ho HN, Niu DM, Su YN.
Hung CC, et al.
Anal Biochem. 2009 Jun 15;389(2):102-6. doi: 10.1016/j.ab.2009.03.032. Epub 2009 Mar 27.
Anal Biochem. 2009.
PMID: 19328768
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Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC, Lin SY, Lee CN, Cheng HY, Lin SP, Chen MR, Chen CP, Chang CH, Lin CY, Yu CC, Chiu HH, Cheng WF, Ho HN, Niu DM, Su YN.
Hung CC, et al.
Ann Hum Genet. 2009 Nov;73(Pt 6):559-67. doi: 10.1111/j.1469-1809.2009.00545.x.
Ann Hum Genet. 2009.
PMID: 19839986
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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor MC, Berger W, Carrel T, Steinmann B, Mátyás G.
Magyar I, et al.
Hum Mutat. 2009 Sep;30(9):1355-64. doi: 10.1002/humu.21058.
Hum Mutat. 2009.
PMID: 19618372
Free article.
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Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP.
Aalberts JJ, et al.
Gene. 2014 Jan 15;534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24.
Gene. 2014.
PMID: 24161884
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Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.
Gao LG, Zhang L, Song L, Wang H, Chang Q, Wu YB, Hui RT, Zhou XL.
Gao LG, et al.
Chin Med J (Engl). 2010 Oct;123(20):2874-8.
Chin Med J (Engl). 2010.
PMID: 21034599
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