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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143 Free article.
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C. Collod-Béroud G, et al. Nucleic Acids Res. 1998 Jan 1;26(1):229-3. doi: 10.1093/nar/26.1.229. Nucleic Acids Res. 1998. PMID: 9399842 Free PMC article.
Marfan syndrome in the third Millennium.
Collod-Béroud G, Boileau C. Collod-Béroud G, et al. Eur J Hum Genet. 2002 Nov;10(11):673-81. doi: 10.1038/sj.ejhg.5200876. Eur J Hum Genet. 2002. PMID: 12404097 Free PMC article. Review.
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.
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
59 results