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]