Aretz S - Search Results

1

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P, Aretz S. Spier I, et al. Among authors: aretz s. Hum Mutat. 2012 Jul;33(7):1045-50. doi: 10.1002/humu.22082. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22431159

2

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W. Aretz S, et al. Eur J Hum Genet. 2004 Jan;12(1):52-8. doi: 10.1038/sj.ejhg.5201088. Eur J Hum Genet. 2004. PMID: 14523376

3

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W. Aretz S, et al. Hum Mutat. 2004 Nov;24(5):370-80. doi: 10.1002/humu.20087. Hum Mutat. 2004. PMID: 15459959

4

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.

Aretz S, Stienen D, Uhlhaas S, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W. Aretz S, et al. J Med Genet. 2005 Feb;42(2):185-92. doi: 10.1136/jmg.2004.022822. J Med Genet. 2005. PMID: 15689459 Free PMC article. No abstract available.

5

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W. Aretz S, et al. Hum Mutat. 2005 Dec;26(6):513-9. doi: 10.1002/humu.20253. Hum Mutat. 2005. PMID: 16287113

6

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

Aretz S, Koch A, Uhlhaas S, Friedl W, Propping P, von Schweinitz D, Pietsch T. Aretz S, et al. Pediatr Blood Cancer. 2006 Nov;47(6):811-8. doi: 10.1002/pbc.20698. Pediatr Blood Cancer. 2006. PMID: 16317745

7

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: aretz s. 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

8

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

Sieber OM, Segditsas S, Knudsen AL, Zhang J, Luz J, Rowan AJ, Spain SL, Thirlwell C, Howarth KM, Jaeger EE, Robinson J, Volikos E, Silver A, Kelly G, Aretz S, Frayling I, Hutter P, Dunlop M, Guenther T, Neale K, Phillips R, Heinimann K, Tomlinson IP. Sieber OM, et al. Among authors: aretz s. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 Free PMC article.

9

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W. Aretz S, et al. Int J Cancer. 2006 Aug 15;119(4):807-14. doi: 10.1002/ijc.21905. Int J Cancer. 2006. PMID: 16557584 Free article.

10

A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.

Pagenstecher C, Gadzicki D, Stienen D, Uhlhaas S, Mangold E, Rahner N, Arslan-Kirchner M, Propping P, Friedl W, Aretz S. Pagenstecher C, et al. Among authors: aretz s. J Mol Diagn. 2007 Feb;9(1):122-6. doi: 10.2353/jmoldx.2007.060096. J Mol Diagn. 2007. PMID: 17251345 Free PMC article.

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