BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

407 related articles for article (PubMed ID: 16995940)

  • 1. 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]  

  • 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. 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]  

  • 4. 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. PubMed ID: 19669161
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 18561205
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.
    Xu DQ; Mattox W
    Hum Mol Genet; 2006 Jan; 15(2):329-36. PubMed ID: 16357104
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
    Belvederesi L; Bianchi F; Loretelli C; Gagliardini D; Galizia E; Bracci R; Rosati S; Bearzi I; Viel A; Cellerino R; Porfiri E
    Eur J Hum Genet; 2006 Jul; 14(7):853-9. PubMed ID: 16724012
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
    Ollila S; Sarantaus L; Kariola R; Chan P; Hampel H; Holinski-Feder E; Macrae F; Kohonen-Corish M; Gerdes AM; Peltomäki P; Mangold E; de la Chapelle A; Greenblatt M; Nyström M
    Gastroenterology; 2006 Nov; 131(5):1408-17. PubMed ID: 17101317
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
    McVety S; Li L; Gordon PH; Chong G; Foulkes WD
    J Med Genet; 2006 Feb; 43(2):153-6. PubMed ID: 15923275
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
    Pérez-Cabornero L; Infante M; Velasco E; Lastra E; Miner C; Durán M
    J Mol Diagn; 2013 May; 15(3):380-90. PubMed ID: 23523604
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Detection mutations in the DNA mismatch repair genes of hMLH1 and hMSH2 genes in Colombian families with suspicion of hereditary non-polyposis colorectal carcinoma (Lynch syndrome)].
    Gómez A; Salguero G; García H; Aristizábal F; Gutiérrez O; Angel LA; Padrón J; Martínez C; Martínez H; Malaver O; Barvo R; Giraldo A
    Biomedica; 2005 Sep; 25(3):315-24. PubMed ID: 16276679
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
    Chao EC; Velasquez JL; Witherspoon MS; Rozek LS; Peel D; Ng P; Gruber SB; Watson P; Rennert G; Anton-Culver H; Lynch H; Lipkin SM
    Hum Mutat; 2008 Jun; 29(6):852-60. PubMed ID: 18383312
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
    Mangold E; Pagenstecher C; Friedl W; Fischer HP; Merkelbach-Bruse S; Ohlendorf M; Friedrichs N; Aretz S; Buettner R; Propping P; Mathiak M
    J Pathol; 2005 Dec; 207(4):385-95. PubMed ID: 16216036
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 21.