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7. Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene. Gould GM; Grauman PV; Theilmann MR; Spurka L; Wang IE; Melroy LM; Chin RG; Hite DH; Chu CS; Maguire JR; Hogan GJ; Muzzey D BMC Med Genet; 2018 Sep; 19(1):176. PubMed ID: 30268105 [TBL] [Abstract][Full Text] [Related]
8. Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. Vaughn CP; Hart KJ; Samowitz WS; Swensen JJ Hum Mutat; 2011 Sep; 32(9):1063-71. PubMed ID: 21618646 [TBL] [Abstract][Full Text] [Related]
9. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Vaughn CP; Robles J; Swensen JJ; Miller CE; Lyon E; Mao R; Bayrak-Toydemir P; Samowitz WS Hum Mutat; 2010 May; 31(5):588-93. PubMed ID: 20205264 [TBL] [Abstract][Full Text] [Related]
11. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. De Vos M; Hayward BE; Picton S; Sheridan E; Bonthron DT Am J Hum Genet; 2004 May; 74(5):954-64. PubMed ID: 15077197 [TBL] [Abstract][Full Text] [Related]
12. Long-range PCR facilitates the identification of PMS2-specific mutations. Clendenning M; Hampel H; LaJeunesse J; Lindblom A; Lockman J; Nilbert M; Senter L; Sotamaa K; de la Chapelle A Hum Mutat; 2006 May; 27(5):490-5. PubMed ID: 16619239 [TBL] [Abstract][Full Text] [Related]
13. A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation. Nomura S; Fujimoto Y; Yamamoto N; Sato Y; Ashihara Y; Kita M; Yamaguchi J; Ishikawa Y; Ueno M; Arai M Jpn J Clin Oncol; 2015 Oct; 45(10):987-92. PubMed ID: 26232782 [TBL] [Abstract][Full Text] [Related]
14. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Nakagawa H; Lockman JC; Frankel WL; Hampel H; Steenblock K; Burgart LJ; Thibodeau SN; de la Chapelle A Cancer Res; 2004 Jul; 64(14):4721-7. PubMed ID: 15256438 [TBL] [Abstract][Full Text] [Related]
15. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. Li J; Dai H; Feng Y; Tang J; Chen S; Tian X; Gorman E; Schmitt ES; Hansen TA; Wang J; Plon SE; Zhang VW; Wong LJ J Mol Diagn; 2015 Sep; 17(5):545-53. PubMed ID: 26320870 [TBL] [Abstract][Full Text] [Related]
16. Polymorphisms in a pseudogene highly homologous to PMS2. Chadwick RB; Meek JE; Prior TW; Peltomaki P; de La Chapelle A Hum Mutat; 2000 Dec; 16(6):530. PubMed ID: 11102987 [TBL] [Abstract][Full Text] [Related]
17. The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. Vaughn CP; Baker CL; Samowitz WS; Swensen JJ Genes Chromosomes Cancer; 2013 Jan; 52(1):107-12. PubMed ID: 23012243 [TBL] [Abstract][Full Text] [Related]
18. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. Clendenning M; Senter L; Hampel H; Robinson KL; Sun S; Buchanan D; Walsh MD; Nilbert M; Green J; Potter J; Lindblom A; de la Chapelle A J Med Genet; 2008 Jun; 45(6):340-5. PubMed ID: 18178629 [TBL] [Abstract][Full Text] [Related]
19. Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. Chong AS; Chong G; Foulkes WD; Saskin A Hum Mutat; 2020 Apr; 41(4):749-752. PubMed ID: 31916644 [TBL] [Abstract][Full Text] [Related]
20. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Hendriks YM; Jagmohan-Changur S; van der Klift HM; Morreau H; van Puijenbroek M; Tops C; van Os T; Wagner A; Ausems MG; Gomez E; Breuning MH; Bröcker-Vriends AH; Vasen HF; Wijnen JT Gastroenterology; 2006 Feb; 130(2):312-22. PubMed ID: 16472587 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]