Buisine MP - Search Results

1

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M. Théry JC, et al. Among authors: buisine mp. Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15. Eur J Hum Genet. 2011. PMID: 21673748 Free PMC article.

2

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. Charbonnier F, et al. Among authors: buisine mp. Cancer Res. 2002 Feb 1;62(3):848-53. Cancer Res. 2002. PMID: 11830542

3

Genomic organization of MUC4 mucin gene. Towards the characterization of splice variants.

Escande F, Lemaitre L, Moniaux N, Batra SK, Aubert JP, Buisine MP. Escande F, et al. Among authors: buisine mp. Eur J Biochem. 2002 Aug;269(15):3637-44. doi: 10.1046/j.1432-1033.2002.03032.x. Eur J Biochem. 2002. PMID: 12153560 Free article.

4

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.

Tournier I, Raux G, Di Fiore F, Maréchal I, Leclerc C, Martin C, Wang Q, Buisine MP, Stoppa-Lyonnet D, Olschwang S, Frébourg T, Tosi M. Tournier I, et al. Among authors: buisine mp. Hum Mutat. 2004 Apr;23(4):379-84. doi: 10.1002/humu.20008. Hum Mutat. 2004. PMID: 15024732

5

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.

Charbonnier F, Baert-Desurmont S, Liang P, Di Fiore F, Martin C, Frerot S, Olschwang S, Wang Q, Buisine MP, Gilbert B, Nilbert M, Lindblom A, Frebourg T. Charbonnier F, et al. Among authors: buisine mp. Hum Mutat. 2005 Sep;26(3):255-61. doi: 10.1002/humu.20216. Hum Mutat. 2005. PMID: 16086322

6

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.

Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T. Baert-Desurmont S, et al. Among authors: buisine mp. Eur J Hum Genet. 2007 Mar;15(3):383-6. doi: 10.1038/sj.ejhg.5201765. Epub 2007 Jan 17. Eur J Hum Genet. 2007. PMID: 17228328

7

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M. Tournier I, et al. Among authors: buisine mp. Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796. Hum Mutat. 2008. PMID: 18561205

8

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.

Houlle S, Charbonnier F, Houivet E, Tinat J, Buisine MP, Caron O, Benichou J, Baert-Desurmont S, Frebourg T. Houlle S, et al. Among authors: buisine mp. Eur J Hum Genet. 2011 Aug;19(8):887-92. doi: 10.1038/ejhg.2011.44. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407259 Free PMC article.

9

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.

Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Buisine MP, Ferrari A, Wang Q, Béroud C, Olschwang S. Grandval P, et al. Among authors: buisine mp. Database (Oxford). 2013 May 31;2013:bat036. doi: 10.1093/database/bat036. Print 2013. Database (Oxford). 2013. PMID: 23729658 Free PMC article.

10

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Rouleau E, Uhrhammer N, Beroud C, Olschwang S. Grandval P, et al. Among authors: buisine mp. J Med Genet. 2015 Jan;52(1):25-7. doi: 10.1136/jmedgenet-2014-102752. Epub 2014 Nov 3. J Med Genet. 2015. PMID: 25368107 No abstract available.

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