Propping P - Search Results

1

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. Among authors: propping p. Eur J Hum Genet. 2004 Jan;12(1):52-8. doi: 10.1038/sj.ejhg.5201088. Eur J Hum Genet. 2004. PMID: 14523376

2

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. Among authors: propping p. Hum Mutat. 2004 Nov;24(5):370-80. doi: 10.1002/humu.20087. Hum Mutat. 2004. PMID: 15459959

3

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C. Wehner M, et al. Among authors: propping p. Eur J Hum Genet. 2005 Aug;13(8):983-6. doi: 10.1038/sj.ejhg.5201421. Eur J Hum Genet. 2005. PMID: 15870828

4

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. Among authors: propping p. Hum Mutat. 2005 Dec;26(6):513-9. doi: 10.1002/humu.20253. Hum Mutat. 2005. PMID: 16287113

5

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. Among authors: propping p. Pediatr Blood Cancer. 2006 Nov;47(6):811-8. doi: 10.1002/pbc.20698. Pediatr Blood Cancer. 2006. PMID: 16317745

6

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: propping p. 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

7

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. Among authors: propping p. Int J Cancer. 2006 Aug 15;119(4):807-14. doi: 10.1002/ijc.21905. Int J Cancer. 2006. PMID: 16557584

8

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: propping p. J Mol Diagn. 2007 Feb;9(1):122-6. doi: 10.2353/jmoldx.2007.060096. J Mol Diagn. 2007. PMID: 17251345 Free PMC article.

9

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W. Aretz S, et al. Among authors: propping p. Hum Mutat. 2007 Oct;28(10):985-92. doi: 10.1002/humu.20549. Hum Mutat. 2007. PMID: 17486639

10

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium. Steinke V, et al. Among authors: propping p. Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301448

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