Baert-Desurmont S - Search Results

1

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I. Baert-Desurmont S, et al. Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967336 Free PMC article.

2

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attié T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R. Frebourg T, et al. J Med Genet. 2006 Feb;43(2):138-42. doi: 10.1136/jmg.2005.031385. Epub 2005 Apr 14. J Med Genet. 2006. PMID: 15831593 Free PMC article.

3

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. Hum Mutat. 2005 Sep;26(3):255-61. doi: 10.1002/humu.20216. Hum Mutat. 2005. PMID: 16086322

4

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.

Bougeard G, Baert-Desurmont S, Tournier I, Vasseur S, Martin C, Brugieres L, Chompret A, Bressac-de Paillerets B, Stoppa-Lyonnet D, Bonaiti-Pellie C, Frebourg T. Bougeard G, et al. J Med Genet. 2006 Jun;43(6):531-3. doi: 10.1136/jmg.2005.037952. Epub 2005 Oct 28. J Med Genet. 2006. PMID: 16258005 Free PMC article.

5

Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.

Chastan N, Baert-Desurmont S, Saugier-Veber P, Dérumeaux G, Cabot A, Frébourg T, Hannequin D. Chastan N, et al. Muscle Nerve. 2006 Jan;33(1):113-9. doi: 10.1002/mus.20448. Muscle Nerve. 2006. PMID: 16258946

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. 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

The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome.

Tinat J, Baert-Desurmont S, Latouche JB, Vasseur S, Martin C, Bouvignies E, Frébourg T. Tinat J, et al. Fam Cancer. 2008;7(4):339-40. doi: 10.1007/s10689-008-9196-6. Epub 2008 May 22. Fam Cancer. 2008. PMID: 18496770 No abstract available.

8

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T; French LFS working group. Bougeard G, et al. J Med Genet. 2008 Aug;45(8):535-8. doi: 10.1136/jmg.2008.057570. Epub 2008 May 29. J Med Genet. 2008. PMID: 18511570

9

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. Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796. Hum Mutat. 2008. PMID: 18561205

10

Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.

Buecher B, Baert-Desurmont S, Leborgne J, Humeau B, Olschwang S, Frébourg T. Buecher B, et al. Eur J Gastroenterol Hepatol. 2008 Oct;20(10):1024-7. doi: 10.1097/MEG.0b013e3282f5f749. Eur J Gastroenterol Hepatol. 2008. PMID: 18787472

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