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Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, Sengteller M, Henn W, Buettner R, Propping P, Mangold E. Pagenstecher C, et al. Among authors: rahner n. Hum Genet. 2006 Mar;119(1-2):9-22. doi: 10.1007/s00439-005-0107-8. Epub 2005 Dec 8. Hum Genet. 2006. PMID: 16341550
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rütten A, Kruse R. Mangold E, et al. Among authors: rahner n. Br J Dermatol. 2007 Jan;156(1):158-62. doi: 10.1111/j.1365-2133.2006.07607.x. Br J Dermatol. 2007. PMID: 17199584 No abstract available.
The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
Krüger S, Engel C, Bier A, Silber AS, Görgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Royer-Pokora B, Dechant S, Pox C, Rahner N, Müller A, Schackert HK; German HNPCC Consortium. Krüger S, et al. Among authors: rahner n. Cancer Lett. 2007 Jul 8;252(1):55-64. doi: 10.1016/j.canlet.2006.12.006. Epub 2007 Jan 16. Cancer Lett. 2007. PMID: 17224235
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium. Steinke V, et al. Among authors: rahner n. Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301448
72 results