Buisine MP - Search Results

1

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

2

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

3

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

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

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

6

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.

7

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.

8

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP. Leclerc J, et al. Among authors: buisine mp. Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790873 Free article.

9

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

Grandval P, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Tinat J, Uhrhammer N, Béroud C, Olschwang S. Grandval P, et al. Among authors: buisine mp. Hum Mutat. 2014 May;35(5):532-6. doi: 10.1002/humu.22539. Epub 2014 Apr 7. Hum Mutat. 2014. PMID: 24599579

10

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S; French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC). Wang Q, et al. Among authors: buisine mp. J Med Genet. 2020 Jul;57(7):487-499. doi: 10.1136/jmedgenet-2019-106256. Epub 2020 Jan 28. J Med Genet. 2020. PMID: 31992580

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