Lefol C - Search Results

1

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.

Lefol C, Sohier E, Baudet C, Naïbo P, Ruano E, Grand-Masson C, Viari A, Wang Q. Lefol C, et al. Eur J Hum Genet. 2021 Mar;29(3):482-488. doi: 10.1038/s41431-020-00778-6. Epub 2020 Dec 5. Eur J Hum Genet. 2021. PMID: 33279946 Free PMC article.

2

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: lefol c. 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

3

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, Bièche I, Olschwang S, Sobol H, Lidereau R. Rouleau E, et al. Among authors: lefol c. Hum Mutat. 2009 Jun;30(6):867-75. doi: 10.1002/humu.20947. Hum Mutat. 2009. PMID: 19224586

4

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, Cohen-Haguenauer O, Giurgea I, Fajac A, Noguès C, Demange L, Hardouin A, Lidereau R, Soubrier F. Coulet F, et al. Among authors: lefol c. Genet Test Mol Biomarkers. 2010 Oct;14(5):677-90. doi: 10.1089/gtmb.2009.0183. Epub 2010 Sep 21. Genet Test Mol Biomarkers. 2010. PMID: 20858050

5

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium. Caputo S, et al. Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. doi: 10.1093/nar/gkr1160. Epub 2011 Dec 5. Nucleic Acids Res. 2012. PMID: 22144684 Free PMC article.

6

A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.

Cheeseman K, Rouleau E, Vannier A, Thomas A, Briaux A, Lefol C, Walrafen P, Bensimon A, Lidereau R, Conseiller E, Ceppi M. Cheeseman K, et al. Among authors: lefol c. Hum Mutat. 2012 Jun;33(6):998-1009. doi: 10.1002/humu.22060. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22473970

7

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: lefol c. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045

8

High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.

Rouleau E, Lefol C, Tozlu S, Andrieu C, Guy C, Copigny F, Nogues C, Bieche I, Lidereau R. Rouleau E, et al. Among authors: lefol c. Clin Genet. 2007 Sep;72(3):199-207. doi: 10.1111/j.1399-0004.2007.00849.x. Clin Genet. 2007. PMID: 17718857

9

First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.

Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S. Rouleau E, et al. Among authors: lefol c. Clin Genet. 2011 Sep;80(3):301-3. doi: 10.1111/j.1399-0004.2011.01699.x. Clin Genet. 2011. PMID: 21815886 No abstract available.

10

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D, Rouleau E, Schultz I, Caputo S, Lefol C, Bièche I, Caron O, Noguès C, Limacher JM, Demange L, Lidereau R, Fricker JP, Abecassis J. Muller D, et al. Among authors: lefol c. BMC Med Genet. 2011 Sep 22;12:121. doi: 10.1186/1471-2350-12-121. BMC Med Genet. 2011. PMID: 21939546 Free PMC article.

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