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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: bernstein i. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
Vasen HF, Möslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Møller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J. Vasen HF, et al. Among authors: bernstein i. J Med Genet. 2007 Jun;44(6):353-62. doi: 10.1136/jmg.2007.048991. Epub 2007 Feb 27. J Med Genet. 2007. PMID: 17327285 Free PMC article. Review.
Guidelines for the clinical management of familial adenomatous polyposis (FAP).
Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J. Vasen HF, et al. Among authors: bernstein i. Gut. 2008 May;57(5):704-13. doi: 10.1136/gut.2007.136127. Epub 2008 Jan 14. Gut. 2008. PMID: 18194984 Free article.
The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.
Watson P, Vasen HFA, Mecklin JP, Bernstein I, Aarnio M, Järvinen HJ, Myrhøj T, Sunde L, Wijnen JT, Lynch HT. Watson P, et al. Among authors: bernstein i. Int J Cancer. 2008 Jul 15;123(2):444-449. doi: 10.1002/ijc.23508. Int J Cancer. 2008. PMID: 18398828 Free PMC article.
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.
Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Møller P, Myrhøj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Lubinski J, Järvinen H, Claes E, Heinimann K, Karagiannis JA, Lindblom A, Dove-Edwin I, Müller H. Vasen HF, et al. Among authors: bernstein i. Fam Cancer. 2010 Jun;9(2):109-15. doi: 10.1007/s10689-009-9291-3. Epub 2009 Sep 18. Fam Cancer. 2010. PMID: 19763885
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ. Andersen SD, et al. Among authors: bernstein i. Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23. Hum Mutat. 2012. PMID: 22753075
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G; Mallorca group. Vasen HF, et al. Among authors: bernstein i. Gut. 2013 Jun;62(6):812-23. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13. Gut. 2013. PMID: 23408351 Free PMC article.
1,267 results