Collod-Beroud G - Search Results

1

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. Faivre L, et al. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34. J Med Genet. 2003. PMID: 12525539 Free PMC article.

2

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards RI, Wang M, Junien C, Boileau C. Collod-Béroud G, et al. Nucleic Acids Res. 1997 Jan 1;25(1):147-50. doi: 10.1093/nar/25.1.147. Nucleic Acids Res. 1997. PMID: 9016526 Free PMC article.

3

Software and database for the analysis of mutations in the human LDL receptor gene.

Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Béroud C. Varret M, et al. Nucleic Acids Res. 1997 Jan 1;25(1):172-80. doi: 10.1093/nar/25.1.172. Nucleic Acids Res. 1997. PMID: 9016531 Free PMC article.

4

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.

5

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. Collod-Béroud G, et al. Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545. Am J Hum Genet. 1999. PMID: 10441597 Free PMC article. No abstract available.

6

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. Béroud C, et al. Hum Mutat. 2000;15(1):86-94. doi: 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10612827

7

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.

8

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.

9

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.

10

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

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