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2. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Wimmer K; Etzler J Hum Genet; 2008 Sep; 124(2):105-22. PubMed ID: 18709565 [TBL] [Abstract][Full Text] [Related]
3. [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]
4. Lynch syndrome in patients with colorectal cancer: finding the needle in the haystack. Ladabaum U; Ford JM JAMA; 2012 Oct; 308(15):1581-3. PubMed ID: 23073955 [No Abstract] [Full Text] [Related]
5. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. Carethers JM; Stoffel EM World J Gastroenterol; 2015 Aug; 21(31):9253-61. PubMed ID: 26309352 [TBL] [Abstract][Full Text] [Related]
6. The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex. Shapira Rootman M; Goldberg Y; Cohen R; Kropach N; Keidar I; Friedland R; Dotan G; Konen O; Toledano H Clin Genet; 2020 Feb; 97(2):296-304. PubMed ID: 31730237 [TBL] [Abstract][Full Text] [Related]
7. Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome. Tamura K; Kaneda M; Futagawa M; Takeshita M; Kim S; Nakama M; Kawashita N; Tatsumi-Miyajima J Int J Clin Oncol; 2019 Sep; 24(9):999-1011. PubMed ID: 31273487 [TBL] [Abstract][Full Text] [Related]
8. [Familial non-polyposis colorectal carcinoma (Lynch syndrome) in Germany - analysis of information, advisory service and family screening]. Schneider R; Rümmele P; Dechant S; Hofstädter F; Lorenz W; Fürst A Dtsch Med Wochenschr; 2011 Jan; 136(1-2):17-22. PubMed ID: 21181610 [TBL] [Abstract][Full Text] [Related]
9. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. González-Acosta M; Marín F; Puliafito B; Bonifaci N; Fernández A; Navarro M; Salvador H; Balaguer F; Iglesias S; Velasco A; Grau Garces E; Moreno V; Gonzalez-Granado LI; Guerra-García P; Ayala R; Florkin B; Kratz C; Ripperger T; Rosenbaum T; Januszkiewicz-Lewandowska D; Azizi AA; Ragab I; Nathrath M; Pander HJ; Lobitz S; Suerink M; Dahan K; Imschweiler T; Demirsoy U; Brunet J; Lázaro C; Rueda D; Wimmer K; Capellá G; Pineda M J Med Genet; 2020 Apr; 57(4):269-273. PubMed ID: 31494577 [TBL] [Abstract][Full Text] [Related]
10. Tumor spectrum in lynch syndrome, DNA mismatch repair system and endogenous carcinogens. Medina-Arana V; Delgado L; Bravo A; Martín J; Fernández-Peralta AM; González-Aguilera JJ J Surg Oncol; 2012 Jul; 106(1):10-6. PubMed ID: 22275225 [TBL] [Abstract][Full Text] [Related]
11. Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome. Te Paske IBAW; Mensenkamp AR; Neveling K; ; Hoogerbrugge N; Ligtenberg MJL; De Voer RM Gastroenterology; 2022 Dec; 163(6):1691-1694.e7. PubMed ID: 36037994 [No Abstract] [Full Text] [Related]
12. Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome. Yang C; Austin F; Richard H; Idowu M; Williamson V; Sabato F; Ferreira-Gonzalez A; Turner SA Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31604779 [TBL] [Abstract][Full Text] [Related]
13. Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics. Orta L; Klimstra DS; Qin J; Mecca P; Tang LH; Busam KJ; Shia J Am J Surg Pathol; 2009 Jun; 33(6):934-44. PubMed ID: 19342947 [TBL] [Abstract][Full Text] [Related]
14. Mismatch repair deficiency assessment by immunohistochemistry: for Lynch syndrome screening and beyond. Wong HL; Christie M; Gately L; Tie J; Lee B; Semira C; Lok SW; Wong R; Gibbs P Future Oncol; 2018 Nov; 14(26):2725-2739. PubMed ID: 30004261 [TBL] [Abstract][Full Text] [Related]
15. BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Nieminen TT; Abdel-Rahman WM; Ristimäki A; Lappalainen M; Lahermo P; Mecklin JP; Järvinen HJ; Peltomäki P Gastroenterology; 2011 Jul; 141(1):e23-6. PubMed ID: 21640116 [No Abstract] [Full Text] [Related]
17. To screen or not to screen for Lynch syndrome. Peres J J Natl Cancer Inst; 2010 Sep; 102(18):1382-4. PubMed ID: 20826733 [No Abstract] [Full Text] [Related]
18. Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations. Sijmons RH; Hofstra RMW DNA Repair (Amst); 2016 Feb; 38():155-162. PubMed ID: 26746812 [TBL] [Abstract][Full Text] [Related]
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20. 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] [Next] [New Search]