BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 20020535)

  • 1. A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
    Drost M; Zonneveld Je; van Dijk L; Morreau H; Tops CM; Vasen HF; Wijnen JT; de Wind N
    Hum Mutat; 2010 Mar; 31(3):247-53. PubMed ID: 20020535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
    Pineda M; González-Acosta M; Thompson BA; Sánchez R; Gómez C; Martínez-López J; Perea J; Caldés T; Rodríguez Y; Landolfi S; Balmaña J; Lázaro C; Robles L; Capellá G; Rueda D
    Clin Genet; 2015 Jun; 87(6):543-8. PubMed ID: 25060679
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comprehensive functional assessment of MLH1 variants of unknown significance.
    Borràs E; Pineda M; Brieger A; Hinrichsen I; Gómez C; Navarro M; Balmaña J; Ramón y Cajal T; Torres A; Brunet J; Blanco I; Plotz G; Lázaro C; Capellá G
    Hum Mutat; 2012 Nov; 33(11):1576-88. PubMed ID: 22736432
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
    Perez-Cabornero L; Velasco E; Infante M; Sanz D; Lastra E; Hernández L; Miner C; Duran M
    Eur J Cancer; 2009 May; 45(8):1485-93. PubMed ID: 19250818
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
    Nyström-Lahti M; Perrera C; Räschle M; Panyushkina-Seiler E; Marra G; Curci A; Quaresima B; Costanzo F; D'Urso M; Venuta S; Jiricny J
    Genes Chromosomes Cancer; 2002 Feb; 33(2):160-7. PubMed ID: 11793442
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Cell-free assay breakthrough for MLH1 variants.
    Hofstra RM; Sijmons RH
    Hum Mutat; 2010 Mar; 31(3):v. PubMed ID: 20162719
    [No Abstract]   [Full Text] [Related]  

  • 8. Novel approaches in evaluation of pathogenicity of single-base exonic germline changes involving the mismatch repair genes MLH1 and MSH2 in diagnostics of Lynch syndrome.
    Gerykova-Bujalkova M; Krivulcik T; Bartosova Z
    Neoplasma; 2008; 55(6):463-71. PubMed ID: 18999873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].
    Czakó L; Tiszlavicz L; Takács R; Baradnay G; Lonovics J; Cserni G; Závodná K; Bartosova Z
    Orv Hetil; 2005 May; 146(20):1009-16. PubMed ID: 15945244
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
    Lagerstedt Robinson K; Liu T; Vandrovcova J; Halvarsson B; Clendenning M; Frebourg T; Papadopoulos N; Kinzler KW; Vogelstein B; Peltomäki P; Kolodner RD; Nilbert M; Lindblom A
    J Natl Cancer Inst; 2007 Feb; 99(4):291-9. PubMed ID: 17312306
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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
    Hum Mutat; 2009 Jun; 30(6):867-75. PubMed ID: 19224586
    [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. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
    Hinrichsen I; Brieger A; Trojan J; Zeuzem S; Nilbert M; Plotz G
    Clin Cancer Res; 2013 May; 19(9):2432-41. PubMed ID: 23403630
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
    Rahner N; Friedrichs N; Steinke V; Aretz S; Friedl W; Buettner R; Mangold E; Propping P; Walldorf C
    J Pathol; 2008 Jan; 214(1):10-6. PubMed ID: 17973250
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR.
    Bettstetter M; Dechant S; Ruemmele P; Grabowski M; Keller G; Holinski-Feder E; Hartmann A; Hofstaedter F; Dietmaier W
    Clin Cancer Res; 2007 Jun; 13(11):3221-8. PubMed ID: 17545526
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
    Morak M; Schackert HK; Rahner N; Betz B; Ebert M; Walldorf C; Royer-Pokora B; Schulmann K; von Knebel-Doeberitz M; Dietmaier W; Keller G; Kerker B; Leitner G; Holinski-Feder E
    Eur J Hum Genet; 2008 Jul; 16(7):804-11. PubMed ID: 18301449
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene.
    Blasi MF; Ventura I; Aquilina G; Degan P; Bertario L; Bassi C; Radice P; Bignami M
    Cancer Res; 2006 Sep; 66(18):9036-44. PubMed ID: 16982745
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.
    Southey MC; Jenkins MA; Mead L; Whitty J; Trivett M; Tesoriero AA; Smith LD; Jennings K; Grubb G; Royce SG; Walsh MD; Barker MA; Young JP; Jass JR; St John DJ; Macrae FA; Giles GG; Hopper JL
    J Clin Oncol; 2005 Sep; 23(27):6524-32. PubMed ID: 16116158
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
    Takahashi M; Shimodaira H; Andreutti-Zaugg C; Iggo R; Kolodner RD; Ishioka C
    Cancer Res; 2007 May; 67(10):4595-604. PubMed ID: 17510385
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.