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Leiden Open Variation Database of the MUTYH gene.
Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Out AA, et al. Among authors: franken pf. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Möslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M. Meijers-Heijboer H, et al. Am J Hum Genet. 2003 May;72(5):1308-14. doi: 10.1086/375121. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690581 Free PMC article.
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. Wagner A, et al. Among authors: franken pf. Am J Hum Genet. 2003 May;72(5):1088-100. doi: 10.1086/373963. Epub 2003 Mar 25. Am J Hum Genet. 2003. PMID: 12658575 Free PMC article.
Smad4 haploinsufficiency: a matter of dosage.
Alberici P, Gaspar C, Franken P, Gorski MM, de Vries I, Scott RJ, Ristimäki A, Aaltonen LA, Fodde R. Alberici P, et al. Pathogenetics. 2008 Nov 3;1(1):2. doi: 10.1186/1755-8417-1-2. Pathogenetics. 2008. PMID: 19014666 Free PMC article.
42 results