Hofstra RMW - Search Results

1

Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.

Houlleberghs H, Dekker M, Lusseveld J, Pieters W, van Ravesteyn T, Verhoef S, Hofstra RMW, Te Riele H. Houlleberghs H, et al. Among authors: hofstra rmw. J Med Genet. 2020 May;57(5):308-315. doi: 10.1136/jmedgenet-2019-106520. Epub 2019 Nov 29. J Med Genet. 2020. PMID: 31784484

2

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H. Houlleberghs H, et al. Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7. Proc Natl Acad Sci U S A. 2016. PMID: 26951660 Free PMC article.

3

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno MJ, Menko FH, Mensenkamp AR, Spaander MCW, Wagner A, Hofstra RMW, Te Riele H. Houlleberghs H, et al. Among authors: hofstra rmw. PLoS Genet. 2017 May 22;13(5):e1006765. doi: 10.1371/journal.pgen.1006765. eCollection 2017 May. PLoS Genet. 2017. PMID: 28531214 Free PMC article.

4

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. Wagner A, et al. J Med Genet. 2001 May;38(5):318-22. doi: 10.1136/jmg.38.5.318. J Med Genet. 2001. PMID: 11333868 Free PMC article.

5

Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.

Goverde A, Eikenboom EL, Viskil EL, Bruno MJ, Doukas M, Dinjens WNM, Dubbink EJ, van den Ouweland AMW, Hofstra RMW, Wagner A, Spaander MCW. Goverde A, et al. Among authors: hofstra rmw. Clin Gastroenterol Hepatol. 2020 May;18(5):1112-1120.e1. doi: 10.1016/j.cgh.2019.08.043. Epub 2019 Aug 27. Clin Gastroenterol Hepatol. 2020. PMID: 31470178

6

No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.

de Jong MM, Hofstra RM, Kooi KA, Westra JL, Berends MJ, Wu Y, Hollema H, van der Sluis T, van der Graaf WT, de Vries EG, Schaapveld M, Sijmons RH, te Meerman GJ, Kleibeuker JH. de Jong MM, et al. Cancer Genet Cytogenet. 2004 Jul 1;152(1):70-1. doi: 10.1016/j.cancergencyto.2003.10.008. Cancer Genet Cytogenet. 2004. PMID: 15193445

7

Routine Molecular Analysis for Lynch Syndrome Among Adenomas or Colorectal Cancer Within a National Screening Program.

Goverde A, Wagner A, Bruno MJ, Hofstra RMW, Doukas M, van der Weiden MM, Dubbink HJ, Dinjens WNM, Spaander MCW. Goverde A, et al. Among authors: hofstra rmw. Gastroenterology. 2018 Nov;155(5):1410-1415. doi: 10.1053/j.gastro.2018.07.029. Epub 2018 Jul 29. Gastroenterology. 2018. PMID: 30063919

8

Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.

Eikenboom EL, van der Werf-'t Lam AS, Rodríguez-Girondo M, Van Asperen CJ, Dinjens WNM, Hofstra RMW, Van Leerdam ME, Morreau H, Spaander MCW, Wagner A, Nielsen M. Eikenboom EL, et al. Among authors: hofstra rmw. Clin Gastroenterol Hepatol. 2022 Mar;20(3):e496-e507. doi: 10.1016/j.cgh.2021.04.021. Epub 2021 Apr 19. Clin Gastroenterol Hepatol. 2022. PMID: 33887476 Free article.

9

MUTYH and the mismatch repair system: partners in crime?

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM. Niessen RC, et al. Hum Genet. 2006 Mar;119(1-2):206-11. doi: 10.1007/s00439-005-0118-5. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408224

10

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH. Niessen RC, et al. Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678. Genes Chromosomes Cancer. 2009. PMID: 19455606

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