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Page 1
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: von knebel doeberitz m. Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1. Genet Med. 2021. PMID: 33257847 Free PMC article.
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J. Kloor M, et al. Among authors: von knebel doeberitz m. Hum Genet. 2004 Oct;115(5):432-8. doi: 10.1007/s00439-004-1176-9. Epub 2004 Aug 31. Hum Genet. 2004. PMID: 15340835
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK. Plaschke J, et al. Among authors: von knebel doeberitz m. J Clin Oncol. 2004 Nov 15;22(22):4486-94. doi: 10.1200/JCO.2004.02.033. Epub 2004 Oct 13. J Clin Oncol. 2004. PMID: 15483016
Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Möslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF; German HNPCC Consortium. Woerner SM, et al. Among authors: von knebel doeberitz m. Oncogene. 2005 Apr 7;24(15):2525-35. doi: 10.1038/sj.onc.1208456. Oncogene. 2005. PMID: 15735733
Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.
Krüger S, Silber AS, Engel C, Görgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Moeslein G, Dietmaier W, Stemmler S, Friedl W, Rüschoff J, Schackert HK; German Hereditary Non-Polyposis Colorectal Cancer Consortium. Krüger S, et al. Among authors: von knebel doeberitz m. Lancet Oncol. 2005 Aug;6(8):566-72. doi: 10.1016/S1470-2045(05)70253-9. Lancet Oncol. 2005. PMID: 16054567
The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).
Krüger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Rüschoff J, Schackert HK; German Hereditary Non-Polyposis Colorectal Cancer Consortium. Krüger S, et al. Among authors: von knebel doeberitz m. J Med Genet. 2005 Oct;42(10):769-73. doi: 10.1136/jmg.2004.028506. J Med Genet. 2005. PMID: 16199549 Free PMC article.
N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC).
Pistorius S, Görgens H, Krüger S, Engel C, Mangold E, Pagenstecher C, Holinski-Feder E, Moeslein G, von Knebel Doeberitz M, Rüschoff J, Karner-Hanusch J, Saeger HD, Schackert HK; German Hnpcc-Consortium. Pistorius S, et al. Among authors: von knebel doeberitz m. Cancer Lett. 2006 Sep 8;241(1):150-7. doi: 10.1016/j.canlet.2005.10.018. Epub 2005 Dec 6. Cancer Lett. 2006. PMID: 16337339
319 results