Béroud C - Search Results

1

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: beroud c. Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780. Hum Mutat. 2008. PMID: 18484607

2

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

3

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Béroud C, Calender A. Wautot V, et al. Among authors: beroud c. Hum Mutat. 2002 Jul;20(1):35-47. doi: 10.1002/humu.10092. Hum Mutat. 2002. PMID: 12112656

4

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M. Villéger L, et al. Among authors: beroud c. Hum Mutat. 2002 Aug;20(2):81-7. doi: 10.1002/humu.10102. Hum Mutat. 2002. PMID: 12124988 Review.

5

The UMD-p53 database: new mutations and analysis tools.

Béroud C, Soussi T. Béroud C, et al. Hum Mutat. 2003 Mar;21(3):176-81. doi: 10.1002/humu.10187. Hum Mutat. 2003. PMID: 12619103 Review.

6

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.

7

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only).

Hamroun D, Béroud C, Fontaine B, Kaplan JC. Hamroun D, et al. Among authors: beroud c. Neuromuscul Disord. 2005 Jan;15(1):88. doi: 10.1016/j.nmd.2004.12.002. Neuromuscul Disord. 2005. PMID: 15639127 No abstract available.

8

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Nguyen K, et al. Among authors: beroud c. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355. Hum Mutat. 2005. PMID: 16010686

9

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

10

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

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