Nürnberg P - Search Results

1

Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis.

Märschenz S, Endres AS, Brinckmann A, Heise T, Kristiansen G, Nürnberg P, Krüger DH, Günther S, Meisel H. Märschenz S, et al. Among authors: nurnberg p. Gastroenterology. 2006 Sep;131(3):765-80. doi: 10.1053/j.gastro.2006.07.008. Gastroenterology. 2006. PMID: 16952546

2

Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes.

Ruf N, Dünzinger U, Brinckmann A, Haaf T, Nürnberg P, Zechner U. Ruf N, et al. Among authors: nurnberg p. Genomics. 2006 Apr;87(4):509-19. doi: 10.1016/j.ygeno.2005.12.007. Epub 2006 Feb 7. Genomics. 2006. PMID: 16455231 Free article.

3

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.

Brinckmann A, Rüther K, Williamson K, Lorenz B, Lucke B, Nürnberg P, Trijbels F, Janssen A, Schuelke M. Brinckmann A, et al. Among authors: nurnberg p. J Mol Med (Berl). 2007 Feb;85(2):163-8. doi: 10.1007/s00109-006-0112-y. Epub 2006 Oct 10. J Mol Med (Berl). 2007. PMID: 17031679

4

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Brinckmann A, Mischung C, Bässmann I, Kühnisch J, Schuelke M, Tinschert S, Nürnberg P. Brinckmann A, et al. Among authors: nurnberg p. Electrophoresis. 2007 Dec;28(23):4295-301. doi: 10.1002/elps.200700118. Electrophoresis. 2007. PMID: 18041031

5

Co-replication analyses of naturally occurring defective hepatitis B virus variants with wild-type.

Märschenz S, Brinckmann A, Nürnberg P, Krüger DH, Günther S, Meisel H. Märschenz S, et al. Among authors: nurnberg p. Virology. 2008 Mar 15;372(2):247-59. doi: 10.1016/j.virol.2007.10.039. Epub 2007 Dec 3. Virology. 2008. PMID: 18061229 Free article.

6

Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

Franke A, Fischer A, Nothnagel M, Becker C, Grabe N, Till A, Lu T, Müller-Quernheim J, Wittig M, Hermann A, Balschun T, Hofmann S, Niemiec R, Schulz S, Hampe J, Nikolaus S, Nürnberg P, Krawczak M, Schürmann M, Rosenstiel P, Nebel A, Schreiber S. Franke A, et al. Among authors: nurnberg p. Gastroenterology. 2008 Oct;135(4):1207-15. doi: 10.1053/j.gastro.2008.07.017. Epub 2008 Jul 18. Gastroenterology. 2008. PMID: 18723019

7

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Horpaopan S, Kirfel J, Peters S, Kloth M, Hüneburg R, Altmüller J, Drichel D, Odenthal M, Kristiansen G, Strassburg C, Nattermann J, Hoffmann P, Nürnberg P, Büttner R, Thiele H, Kahl P, Spier I, Aretz S. Horpaopan S, et al. Among authors: nurnberg p. Hered Cancer Clin Pract. 2017 Nov 29;15:22. doi: 10.1186/s13053-017-0082-9. eCollection 2017. Hered Cancer Clin Pract. 2017. PMID: 29213343 Free PMC article.

8

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Tinschert S, Ruf N, Bernascone I, Sacherer K, Lamorte G, Neumayer HH, Nürnberg P, Luft FC, Rampoldi L. Tinschert S, et al. Among authors: nurnberg p. Nephrol Dial Transplant. 2004 Dec;19(12):3150-4. doi: 10.1093/ndt/gfh524. Nephrol Dial Transplant. 2004. PMID: 15575003

9

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.

Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P. Robinson PN, et al. Among authors: nurnberg p. Hum Mol Genet. 2004 Sep 1;13(17):1969-78. doi: 10.1093/hmg/ddh207. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254011

10

Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.

Detjen AK, Tinschert S, Kaufmann D, Algermissen B, Nürnberg P, Schuelke M. Detjen AK, et al. Among authors: nurnberg p. Twin Res Hum Genet. 2007 Jun;10(3):486-95. doi: 10.1375/twin.10.3.486. Twin Res Hum Genet. 2007. PMID: 17564507

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