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9. Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes. de Vos M; Hayward B; Bonthron DT; Sheridan E Biochem Soc Trans; 2005 Aug; 33(Pt 4):718-20. PubMed ID: 16042583 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Will O; Carvajal-Carmona LG; Gorman P; Howarth KM; Jones AM; Polanco-Echeverry GM; Chinaleong JA; Günther T; Silver A; Clark SK; Tomlinson I Gastroenterology; 2007 Feb; 132(2):527-30. PubMed ID: 17258725 [TBL] [Abstract][Full Text] [Related]
12. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Herkert JC; Niessen RC; Olderode-Berends MJ; Veenstra-Knol HE; Vos YJ; van der Klift HM; Scheenstra R; Tops CM; Karrenbeld A; Peters FT; Hofstra RM; Kleibeuker JH; Sijmons RH Eur J Cancer; 2011 May; 47(7):965-82. PubMed ID: 21376568 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Tan TY; Orme LM; Lynch E; Croxford MA; Dow C; Dewan PA; Lipton L J Pediatr Hematol Oncol; 2008 Mar; 30(3):254-7. PubMed ID: 18376293 [TBL] [Abstract][Full Text] [Related]
15. Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Chen PC; Dudley S; Hagen W; Dizon D; Paxton L; Reichow D; Yoon SR; Yang K; Arnheim N; Liskay RM; Lipkin SM Cancer Res; 2005 Oct; 65(19):8662-70. PubMed ID: 16204034 [TBL] [Abstract][Full Text] [Related]
16. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. De Rosa M; Fasano C; Panariello L; Scarano MI; Belli G; Iannelli A; Ciciliano F; Izzo P Oncogene; 2000 Mar; 19(13):1719-23. PubMed ID: 10763829 [TBL] [Abstract][Full Text] [Related]
17. [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation]. Ilenčíková D Klin Onkol; 2012; 25 Suppl():S34-8. PubMed ID: 22920205 [TBL] [Abstract][Full Text] [Related]
18. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Whiteside D; McLeod R; Graham G; Steckley JL; Booth K; Somerville MJ; Andrew SE Cancer Res; 2002 Jan; 62(2):359-62. PubMed ID: 11809679 [TBL] [Abstract][Full Text] [Related]
19. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. Johannesma PC; van der Klift HM; van Grieken NC; Troost D; Te Riele H; Jacobs MA; Postma TJ; Heideman DA; Tops CM; Wijnen JT; Menko FH Clin Genet; 2011 Sep; 80(3):243-55. PubMed ID: 21261604 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]