These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
25. Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods. Arora S; Huwe PJ; Sikder R; Shah M; Browne AJ; Lesh R; Nicolas E; Deshpande S; Hall MJ; Dunbrack RL; Golemis EA Cancer Biol Ther; 2017 Jul; 18(7):519-533. PubMed ID: 28494185 [TBL] [Abstract][Full Text] [Related]
26. Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. Wielders EA; Houlleberghs H; Isik G; te Riele H PLoS One; 2013; 8(9):e74766. PubMed ID: 24040339 [TBL] [Abstract][Full Text] [Related]
27. Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome. Liu Q; Thompson BA; Ward RL; Hesson LB; Sloane MA Hum Mutat; 2016 May; 37(5):417-26. PubMed ID: 26888055 [TBL] [Abstract][Full Text] [Related]
28. Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. Carneiro da Silva F; Ferreira JR; Torrezan GT; Figueiredo MC; Santos ÉM; Nakagawa WT; Brianese RC; Petrolini de Oliveira L; Begnani MD; Aguiar-Junior S; Rossi BM; Ferreira Fde O; Carraro DM PLoS One; 2015; 10(10):e0139753. PubMed ID: 26437257 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Rasmussen LJ; Heinen CD; Royer-Pokora B; Drost M; Tavtigian S; Hofstra RM; de Wind N Hum Mutat; 2012 Dec; 33(12):1617-25. PubMed ID: 22833534 [TBL] [Abstract][Full Text] [Related]
31. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. Borràs E; Pineda M; Cadiñanos J; Del Valle J; Brieger A; Hinrichsen I; Cabanillas R; Navarro M; Brunet J; Sanjuan X; Musulen E; van der Klift H; Lázaro C; Plotz G; Blanco I; Capellá G J Med Genet; 2013 Aug; 50(8):552-63. PubMed ID: 23709753 [TBL] [Abstract][Full Text] [Related]
32. Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo. Mastrocola AS; Heinen CD Hum Mutat; 2010 Oct; 31(10):E1699-708. PubMed ID: 20672385 [TBL] [Abstract][Full Text] [Related]
33. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families. Steinke V; Holzapfel S; Loeffler M; Holinski-Feder E; Morak M; Schackert HK; Görgens H; Pox C; Royer-Pokora B; von Knebel-Doeberitz M; Büttner R; Propping P; Engel C; Int J Cancer; 2014 Jul; 135(1):69-77. PubMed ID: 24493211 [TBL] [Abstract][Full Text] [Related]
34. Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. Drost M; Koppejan H; de Wind N Hum Mutat; 2013 Nov; 34(11):1477-80. PubMed ID: 24027009 [TBL] [Abstract][Full Text] [Related]
35. A database to support the interpretation of human mismatch repair gene variants. Ou J; Niessen RC; Vonk J; Westers H; Hofstra RM; Sijmons RH Hum Mutat; 2008 Nov; 29(11):1337-41. PubMed ID: 18951442 [TBL] [Abstract][Full Text] [Related]
36. Classification of mismatch repair gene missense variants with PON-MMR. Ali H; Olatubosun A; Vihinen M Hum Mutat; 2012 Apr; 33(4):642-50. PubMed ID: 22290698 [TBL] [Abstract][Full Text] [Related]
37. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. Baris HN; Barnes-Kedar I; Toledano H; Halpern M; Hershkovitz D; Lossos A; Lerer I; Peretz T; Kariv R; Cohen S; Half EE; Magal N; Drasinover V; Wimmer K; Goldberg Y; Bercovich D; Levi Z Pediatr Blood Cancer; 2016 Mar; 63(3):418-27. PubMed ID: 26544533 [TBL] [Abstract][Full Text] [Related]
38. Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells. Wielders EA; Dekker RJ; Holt I; Morris GE; te Riele H Hum Mutat; 2011 Apr; 32(4):389-96. PubMed ID: 21309037 [TBL] [Abstract][Full Text] [Related]
39. Evidence for breast cancer as an integral part of Lynch syndrome. Buerki N; Gautier L; Kovac M; Marra G; Buser M; Mueller H; Heinimann K Genes Chromosomes Cancer; 2012 Jan; 51(1):83-91. PubMed ID: 22034109 [TBL] [Abstract][Full Text] [Related]
40. Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. Ollila S; Dermadi Bebek D; Greenblatt M; Nyström M Int J Cancer; 2008 Aug; 123(3):720-4. PubMed ID: 18470917 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]