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Your search keyword '"Fodde, R."' showing total 6 results
Start Over Author "Fodde, R." Journal journal of medical genetics
6 results on '"Fodde, R."'

1. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

Author

Nielsen, M, Franken, P F, Reinards, T H C M, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G E M, Bröcker-Vriends, A H J T, Garcia, E B Gomez, Hoogerbrugge, N, Menko, F H, Sijmons, R H, Verhoef, S, Kuipers, E J, Morreau, H, Breuning, M H, Tops, C M J, Wijnen, J T, Vasen, H F A, Fodde, R, and Hes, F J

Published
2005

6. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation.

Author

Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, and Verellen-Dumoulin C

Subjects
Adenomatous Polyposis Coli pathology, Adrenocortical Adenoma pathology, Heteroduplex Analysis, Humans, Male, Middle Aged, Pedigree, Phenotype, Sequence Analysis, DNA, Adenomatous Polyposis Coli genetics, Adrenocortical Adenoma genetics, Genes, APC, Germ-Line Mutation
Abstract

Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three of the four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex and late onset phenotype of FAP.

Published
1999

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