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Items: 1 to 20 of 199

1.

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, Sengteller M, Henn W, Buettner R, Propping P, Mangold E.

Hum Genet. 2006 Mar;119(1-2):9-22.

PMID:
16341550
2.

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

Auclair J, Busine MP, Navarro C, Ruano E, Montmain G, Desseigne F, Saurin JC, Lasset C, Bonadona V, Giraud S, Puisieux A, Wang Q.

Hum Mutat. 2006 Feb;27(2):145-54.

PMID:
16395668
3.

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.

Pistorius S, Görgens H, Plaschke J, Hoehl R, Krüger S, Engel C, Saeger HD, Schackert HK.

Cancer Lett. 2007 Apr 8;248(1):89-95.

PMID:
16837128
4.

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.

Zavodna K, Bujalkova M, Krivulcik T, Alemayehu A, Skorvaga M, Marra G, Fridrichova I, Jiricny J, Bartosova Z.

Neoplasma. 2006;53(4):269-76.

PMID:
16830052
5.

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.

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

PMID:
18561205
6.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Bianchi F, Raponi M, Piva F, Viel A, Bearzi I, Galizia E, Bracci R, Belvederesi L, Loretelli C, Brugiati C, Corradini F, Baralle D, Cellerino R.

Fam Cancer. 2011 Mar;10(1):27-35. doi: 10.1007/s10689-010-9371-4.

7.
8.

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.

Naruse H, Ikawa N, Yamaguchi K, Nakamura Y, Arai M, Ishioka C, Sugano K, Tamura K, Tomita N, Matsubara N, Yoshida T, Moriya Y, Furukawa Y.

Fam Cancer. 2009;8(4):509-17. doi: 10.1007/s10689-009-9280-6.

PMID:
19685281
9.

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Jakubowska A, Górski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, Kladny J, Oszurek O, Scott RJ, Lubinski J.

Hum Mutat. 2001;17(1):52-60.

PMID:
11139242
10.

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

Sharp A, Pichert G, Lucassen A, Eccles D.

Hum Mutat. 2004 Sep;24(3):272.

PMID:
15300854
11.

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Petersen SM, Dandanell M, Rasmussen LJ, Gerdes AM, Krogh LN, Bernstein I, Okkels H, Wikman F, Nielsen FC, Hansen TV.

BMC Med Genet. 2013 Oct 3;14:103. doi: 10.1186/1471-2350-14-103.

12.

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

Krüger S, Bier A, Plaschke J, Höhl R, Aust DE, Kreuz FR, Pistorius SR, Saeger HD, Rothhammer V, Al-Taie O, Schackert HK.

Hum Mutat. 2004 Oct;24(4):351-2.

PMID:
15365996
13.

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J.

Clin Genet. 2006 Jan;69(1):40-7.

PMID:
16451135
14.

[The analysis for mRNA mutation of MLH1, MSH2 genes and the gene diagnosis for hereditary nonpolyposis colorectal cancer].

Wang CF, Zhou XY, Zhang TM, Sun MH, Xu Y, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):32-6. Chinese.

PMID:
16456782
15.

Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ, Chan TL, Chan YW, Huang JS, Chen JG, Zhang MZ, Guo XL, Mu H, Chan AS, Li SR, Yuen ST, Leung SY.

Chin J Dig Dis. 2006;7(4):197-205.

PMID:
17054581
16.

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

Betz B, Theiss S, Aktas M, Konermann C, Goecke TO, Möslein G, Schaal H, Royer-Pokora B.

J Cancer Res Clin Oncol. 2010 Jan;136(1):123-34. doi: 10.1007/s00432-009-0643-z.

PMID:
19669161
17.

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.

Eur J Hum Genet. 2007 Mar;15(3):383-6.

18.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
19.

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

Clarke LA, Veiga I, Isidro G, Jordan P, Ramos JS, Castedo S, Boavida MG.

Genes Chromosomes Cancer. 2000 Dec;29(4):367-70.

PMID:
11066084
20.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100.

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