Aretz S - Search Results

1

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty.

Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T. Aretz S, et al. Am J Med Genet A. 2005 Jun 15;135(3):336-8. doi: 10.1002/ajmg.a.30755. Am J Med Genet A. 2005. PMID: 15887281 No abstract available.

2

[The genetic revolution-impact on therapy and prevention].

Propping P, Aretz S. Propping P, et al. Among authors: aretz s. Internist (Berl). 2004 Jun;45 Suppl 1:S6-14. doi: 10.1007/s00108-004-1218-3. Internist (Berl). 2004. PMID: 15241503 German.

3

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.

4

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

5

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.

6

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C. Rahner N, et al. Among authors: aretz s. Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. Am J Med Genet A. 2008. PMID: 18409202 Review.

7

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

8

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

9

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: aretz s. Eur J Hum Genet. 2005 Aug;13(8):983-6. doi: 10.1038/sj.ejhg.5201421. Eur J Hum Genet. 2005. PMID: 15870828

10

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, Friedrichs N, Aretz S, Buettner R, Propping P, Mathiak M. Mangold E, et al. Among authors: aretz s. J Pathol. 2005 Dec;207(4):385-95. doi: 10.1002/path.1858. J Pathol. 2005. PMID: 16216036

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