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27. [Constitutional MMR deficiency: Genetic bases and clinical implications]. Buecher B; Le Mentec M; Doz F; Bourdeaut F; Gauthier-Villars M; Stoppa-Lyonnet D; Colas C Bull Cancer; 2019 Feb; 106(2):162-172. PubMed ID: 30551794 [TBL] [Abstract][Full Text] [Related]
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30. PMS2 mutations in childhood cancer. Bonthron DT; Hayward BE; De Vos M; Sheridan E Gut; 2005 Dec; 54(12):1821. PubMed ID: 16284300 [No Abstract] [Full Text] [Related]
31. Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. Mork ME; Borras E; Taggart MW; Cuddy A; Bannon SA; You YN; Lynch PM; Ramirez PT; Rodriguez-Bigas MA; Vilar E Fam Cancer; 2016 Oct; 15(4):587-91. PubMed ID: 27017610 [TBL] [Abstract][Full Text] [Related]
32. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. Bodo S; Colas C; Buhard O; Collura A; Tinat J; Lavoine N; Guilloux A; Chalastanis A; Lafitte P; Coulet F; Buisine MP; Ilencikova D; Ruiz-Ponte C; Kinzel M; Grandjouan S; Brems H; Lejeune S; Blanché H; Wang Q; Caron O; Cabaret O; Svrcek M; Vidaud D; Parfait B; Verloes A; Knappe UJ; Soubrier F; Mortemousque I; Leis A; Auclair-Perrossier J; Frébourg T; Fléjou JF; Entz-Werle N; Leclerc J; Malka D; Cohen-Haguenauer O; Goldberg Y; Gerdes AM; Fedhila F; Mathieu-Dramard M; Hamelin R; Wafaa B; Gauthier-Villars M; Bourdeaut F; Sheridan E; Vasen H; Brugières L; Wimmer K; Muleris M; Duval A; Gastroenterology; 2015 Oct; 149(4):1017-29.e3. PubMed ID: 26116798 [TBL] [Abstract][Full Text] [Related]
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34. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. van der Klift HM; Mensenkamp AR; Drost M; Bik EC; Vos YJ; Gille HJ; Redeker BE; Tiersma Y; Zonneveld JB; García EG; Letteboer TG; Olderode-Berends MJ; van Hest LP; van Os TA; Verhoef S; Wagner A; van Asperen CJ; Ten Broeke SW; Hes FJ; de Wind N; Nielsen M; Devilee P; Ligtenberg MJ; Wijnen JT; Tops CM Hum Mutat; 2016 Nov; 37(11):1162-1179. PubMed ID: 27435373 [TBL] [Abstract][Full Text] [Related]
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36. 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]
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38. Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome. Wang Z; Sun Y; Gao B; Lu Y; Fang R; Gao Y; Xiao T; Liu XY; Pao W; Zhao Y; Chen H; Ji H Cancer Lett; 2014 Jan; 342(1):36-42. PubMed ID: 23981578 [TBL] [Abstract][Full Text] [Related]
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