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7. 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]
8. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. Auclair J; Leroux D; Desseigne F; Lasset C; Saurin JC; Joly MO; Pinson S; Xu XL; Montmain G; Ruano E; Navarro C; Puisieux A; Wang Q Hum Mutat; 2007 Nov; 28(11):1084-90. PubMed ID: 17557300 [TBL] [Abstract][Full Text] [Related]
9. Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. Jackson CC; Holter S; Pollett A; Clendenning M; Chou S; Senter L; Ramphal R; Gallinger S; Boycott K Pediatr Blood Cancer; 2008 Jun; 50(6):1268-70. PubMed ID: 18273873 [TBL] [Abstract][Full Text] [Related]
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11. 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]
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. Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Wernstedt A; Valtorta E; Armelao F; Togni R; Girlando S; Baudis M; Heinimann K; Messiaen L; Staehli N; Zschocke J; Marra G; Wimmer K Genes Chromosomes Cancer; 2012 Sep; 51(9):819-31. PubMed ID: 22585707 [TBL] [Abstract][Full Text] [Related]
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16. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Krüger S; Kinzel M; Walldorf C; Gottschling S; Bier A; Tinschert S; von Stackelberg A; Henn W; Görgens H; Boue S; Kölble K; Büttner R; Schackert HK Eur J Hum Genet; 2008 Jan; 16(1):62-72. PubMed ID: 17851451 [TBL] [Abstract][Full Text] [Related]
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19. 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]
20. 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] [Next] [New Search]