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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann K, Vaccaro CA, Nakken S, Hovig E, Green K, Lalloo F, Hill J, Vasen HFA, Perne C, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sánchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Piñero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rødland EA, Neffa F, Esperon P, Tjandra D, Möslein G, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: buttner r. J Clin Med. 2021 Jun 28;10(13):2856. doi: 10.3390/jcm10132856. J Clin Med. 2021. PMID: 34203177 Free PMC article.
Beta2-microglobulin mutations in microsatellite unstable colorectal tumors.
Kloor M, Michel S, Buckowitz B, Rüschoff J, Büttner R, Holinski-Feder E, Dippold W, Wagner R, Tariverdian M, Benner A, Schwitalle Y, Kuchenbuch B, von Knebel Doeberitz M. Kloor M, et al. Among authors: buttner r. Int J Cancer. 2007 Jul 15;121(2):454-8. doi: 10.1002/ijc.22691. Int J Cancer. 2007. PMID: 17373663 Free article.
Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
Müller A, Zielinski D, Friedrichs N, Oberschmid B, Merkelbach-Bruse S, Schackert HK, Linnebacher M, von Knebel Doeberitz M, Büttner R, Rüschoff J; German HNPCC Consortium, German Cancer Aid Deutsche Krebshilfe. Müller A, et al. Among authors: buttner r. Virchows Arch. 2008 Jul;453(1):9-16. doi: 10.1007/s00428-008-0637-2. Epub 2008 Jun 26. Virchows Arch. 2008. PMID: 18581137
Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer.
Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Möslein G, Görgens H, Dechant S, von Knebel Doeberitz M, Rüschoff J, Friedrichs N, Büttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium. Engel C, et al. Among authors: buttner r. Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14. Clin Gastroenterol Hepatol. 2010. PMID: 19835992
Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study.
Campa D, Pardini B, Naccarati A, Vodickova L, Novotny J, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Kötting J, Betz B, Kloor M, Engel C, Büttner R, Propping P, Försti A, Hemminki K, Barale R, Vodicka P, Canzian F. Campa D, et al. Among authors: buttner r. BMC Gastroenterol. 2010 Sep 28;10:112. doi: 10.1186/1471-230X-10-112. BMC Gastroenterol. 2010. PMID: 20920174 Free PMC article.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ. Kempers MJ, et al. Among authors: buttner r. Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8. Lancet Oncol. 2011. PMID: 21145788 Free PMC article.
Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin.
Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Stemmler S, Betz B, Kloor M, Engel C, Büttner R, Naccarati A, Vodickova L, Novotny J, Stein A, Hemminki K, Propping P, Försti A, Canzian F, Barale R, Campa D. Carrai M, et al. Among authors: buttner r. PLoS One. 2011;6(6):e20464. doi: 10.1371/journal.pone.0020464. Epub 2011 Jun 2. PLoS One. 2011. PMID: 21674048 Free PMC article.
Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
Steinke V, Engel C, Büttner R, Schackert HK, Schmiegel WH, Propping P. Steinke V, et al. Among authors: buttner r. Dtsch Arztebl Int. 2013 Jan;110(3):32-8. doi: 10.3238/arztebl.2013.0032. Epub 2013 Jan 18. Dtsch Arztebl Int. 2013. PMID: 23413378 Free PMC article. Review.
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B. Yang R, et al. Among authors: buttner r. Carcinogenesis. 2014 Feb;35(2):315-23. doi: 10.1093/carcin/bgt344. Epub 2013 Oct 14. Carcinogenesis. 2014. PMID: 24127187
482 results