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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. Among authors: fodde r. Pathogenetics. 2008 Nov 3;1(1):2. doi: 10.1186/1755-8417-1-2. Pathogenetics. 2008. PMID: 19014666 Free PMC article.
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
Wagner A, van der Klift H, Franken P, Wijnen J, Breukel C, Bezrookove V, Smits R, Kinarsky Y, Barrows A, Franklin B, Lynch J, Lynch H, Fodde R. Wagner A, et al. Among authors: fodde r. Genes Chromosomes Cancer. 2002 Sep;35(1):49-57. doi: 10.1002/gcc.10094. Genes Chromosomes Cancer. 2002. PMID: 12203789
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. Among authors: fodde r. 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.
197 results