Olschwang S - Search Results

1

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: olschwang s. Hum Mutat. 2009 Jun;30(6):867-75. doi: 10.1002/humu.20947. Hum Mutat. 2009. PMID: 19224586

2

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, Briaux A, Bourdon V, Rémy V, Gaildrat P, Adélaïde J, Birnbaum D, Lidereau R, Sobol H, Olschwang S. Lagarde A, et al. Among authors: olschwang s. J Med Genet. 2010 Oct;47(10):721-2. doi: 10.1136/jmg.2010.078964. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685668 Free article.

3

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S. Rousseau G, et al. Among authors: olschwang s. BMC Neurol. 2011 Jan 24;11:9. doi: 10.1186/1471-2377-11-9. BMC Neurol. 2011. PMID: 21255467 Free PMC article.

4

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: olschwang s. 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.

5

Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening.

Julié C, Trésallet C, Brouquet A, Vallot C, Zimmermann U, Mitry E, Radvanyi F, Rouleau E, Lidereau R, Coulet F, Olschwang S, Frébourg T, Rougier P, Nordlinger B, Laurent-Puig P, Penna C, Boileau C, Franc B, Muti C, Hofmann-Radvanyi H. Julié C, et al. Among authors: olschwang s. Am J Gastroenterol. 2008 Nov;103(11):2825-35; quiz 2836. doi: 10.1111/j.1572-0241.2008.02084.x. Epub 2008 Aug 27. Am J Gastroenterol. 2008. PMID: 18759827

6

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers.

Olschwang S, Yu K, Lasset C, Baert-Desurmont S, Buisine MP, Wang Q, Hutter P, Rouleau E, Caron O, Bourdon V, Thomas G. Olschwang S, et al. J Cancer Epidemiol. 2009;2009:791754. doi: 10.1155/2009/791754. Epub 2009 Mar 8. J Cancer Epidemiol. 2009. PMID: 20445804 Free PMC article.

7

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Bonadona V, et al. Among authors: olschwang s. JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743. JAMA. 2011. PMID: 21642682

8

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: olschwang s. Hum Mutat. 2014 May;35(5):532-6. doi: 10.1002/humu.22539. Epub 2014 Apr 7. Hum Mutat. 2014. PMID: 24599579

9

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.

Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C. Pujol P, et al. Among authors: olschwang s. Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24. Breast Cancer Res Treat. 2013. PMID: 23974829

10

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: olschwang s. Hum Mutat. 2004 Apr;23(4):379-84. doi: 10.1002/humu.20008. Hum Mutat. 2004. PMID: 15024732

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