624 related articles for article (PubMed ID: 16341550)
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. PubMed ID: 16341550
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16395668
[TBL] [Abstract][Full Text] [Related]
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; 248(1):89-95. PubMed ID: 16837128
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18561205
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 16830052
[TBL] [Abstract][Full Text] [Related]
6. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Lastella P; Surdo NC; Resta N; Guanti G; Stella A
BMC Genomics; 2006 Sep; 7():243. PubMed ID: 16995940
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 11139242
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15300854
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16451135
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 15365996
[TBL] [Abstract][Full Text] [Related]
11. [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. PubMed ID: 16456782
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 17228328
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 17054581
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 11066084
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 20717847
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 19685281
[TBL] [Abstract][Full Text] [Related]
18. A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
Stella A; Wagner A; Shito K; Lipkin SM; Watson P; Guanti G; Lynch HT; Fodde R; Liu B
Cancer Res; 2001 Oct; 61(19):7020-4. PubMed ID: 11585727
[TBL] [Abstract][Full Text] [Related]
19. Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.
Zhang J; Lindroos A; Ollila S; Russell A; Marra G; Mueller H; Peltomaki P; Plasilova M; Heinimann K
Cancer Res; 2006 Jan; 66(2):659-64. PubMed ID: 16423994
[TBL] [Abstract][Full Text] [Related]
20. 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; 14():103. PubMed ID: 24090359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]