Aretz S - Search Results

1

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J, Spier I, Adam RS, Holzapfel S, Uhlhaas S, Kayser K, Plotz G, Peters S, Aretz S. Henn J, et al. Among authors: aretz s. Hered Cancer Clin Pract. 2019 Jan 23;17:5. doi: 10.1186/s13053-018-0102-4. eCollection 2019. Hered Cancer Clin Pract. 2019. PMID: 30680046 Free PMC article.

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

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

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

6

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

7

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.

8

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. Hum Mutat. 2007 Oct;28(10):985-92. doi: 10.1002/humu.20549. Hum Mutat. 2007. PMID: 17486639

9

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. Aretz S, et al. J Med Genet. 2007 Nov;44(11):702-9. doi: 10.1136/jmg.2007.052506. Epub 2007 Sep 14. J Med Genet. 2007. PMID: 17873119 Free PMC article.

10

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P, Friedl W, Aretz S. Kaufmann A, et al. Among authors: aretz s. J Mol Diagn. 2009 Mar;11(2):131-9. doi: 10.2353/jmoldx.2009.080129. Epub 2009 Feb 5. J Mol Diagn. 2009. PMID: 19196998 Free PMC article. Review.

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