January 2013 Author(s): C.L. Behnes, C. Schlegel, M. Shoukier, I. Magiera, F. Henschke, A. Schwarz, F. Bremmer, H. Loertzer
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases. Published: BMC Urology 2013, 13:3 doi:10.1186/1471-2490-13-3 Der Artikel ist online abrufbar unter biomedcentral.
April 2012 Author(s): Kaden D, Harmeier A, Weise C, Munter LM, Althoff V, Rost BR, Hildebrand PW, Schmitz D, Schaefer M, Lurz R, Skodda S, Yamamoto R, Arlt S, Finckh U, Multhaup G.
Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers. Published: EMBO Mol Med. 2012 Apr 19. doi: 10.1002/emmm.201200239. Artikel online verfügbar unter EMBO. Molecular Medicine.
April 2012 Author(s): Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Morak M, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P. Aretz S
Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis. Published: Human Mutation 2012 Jul;33(7):1045-50. doi: 10.1002/humu.22082. Epub 2012 Apr 16.
April 2012 Author(s): N. Janzen, F. G. Riepe, M. Peter, S. Sander, U. Steuerwald, E. Korsch, F. Krull, H. L. Müller, S. Heger, C. Brack, J. Sander
Neonatal Screening: Identification of Children with 11-Hydroxylase Deficiency by Second-Tier Testing. Published: Horm Res Paediatr 2012;77:195199
November 2011 Author(s): A. Rüfer, J. P. Howell, A. P. Lange, R. Yamamoto, J. Heuscher, M. Gregor, W. A. Wuillemin
Hyperferritinämie und Eisenmangel eine außergewöhnliche Liaison. Forum Med Suisse 2011; 11(5): 8788. Published: Artikel online unter www.medicalforum.ch.
Published: Eur J Hum Genet. 2012 Feb; 20(2) Published online 2011 Sep 14. doi: 10.1038/ejhg.2011.172 PMCID: PMC3260912
August 2011 Author(s): Nieuwenhuis MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, Aretz S, Vasen HF
Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Published: The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands. Gut. 2012 May;61(5):734-8. doi: 10.1136/gut.2010.229104. Epub 2011 Aug 16.
March 2011 Author(s): A. Rüfer, J. P. Howell, A. P. Lange, R. Yamamoto, J. Heuscher, M. Gregor, W. A. Wuillemin
Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family. Published: European Journal of Haematology Abstrakt unter Eur J Haematol. 2011 Mar 15. doi: 10.1111/j.1600-0609.2011.01607.x.
November 2010 Author(s): Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients Published: Journal of the National Cancer Institute/ J Natl Cancer Inst. 2010 Nov 17;102(22):1724-30. doi: 10.1093/jnci/djq370. Epub 2010 Nov 2.
July 2010 Author(s): N. Jones, M. Nielsen, M.C. Joerink-van de Beld, S. Vogt, C.M. Tops, H.F.A. Vasen, F.J. Hes, S. Aretz, J. R. Sampson
MUTYH-associated polyposis Published: In: Rodriguez-Bigas MA, Cutait R, Lynch PM, Tomlinson I, Vasen HF (eds): Hereditary Colorectal Cancer. Springer Verlag, 2010, 349-364.
