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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Khau Van Kien P, et al. Among authors: beroud c. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 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. Among authors: beroud c. 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.
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. Among authors: beroud c. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.
UMD (Universal Mutation Database): 2005 update.
Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M. Béroud C, et al. Hum Mutat. 2005 Sep;26(3):184-91. doi: 10.1002/humu.20210. Hum Mutat. 2005. PMID: 16086365
The UMD TP53 database and website: update and revisions.
Hamroun D, Kato S, Ishioka C, Claustres M, Béroud C, Soussi T. Hamroun D, et al. Among authors: beroud c. Hum Mutat. 2006 Jan;27(1):14-20. doi: 10.1002/humu.20269. Hum Mutat. 2006. PMID: 16278824
164 results