Robinson PN - Search Results

1

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Howard MF, et al. Among authors: robinson pn. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439110 Free PMC article.

2

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P. Horn D, et al. Among authors: robinson pn. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181

3

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. 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

4

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: robinson pn. Hum Mol Genet. 2004 Oct 15;13(20):2351-9. doi: 10.1093/hmg/ddh277. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333588

5

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.

Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. Booms P, et al. Among authors: robinson pn. Hum Genet. 2005 Jan;116(1-2):51-61. doi: 10.1007/s00439-004-1194-7. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517394

6

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.

Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN. Booms P, et al. Among authors: robinson pn. J Mol Cell Cardiol. 2006 Feb;40(2):234-46. doi: 10.1016/j.yjmcc.2005.11.009. J Mol Cell Cardiol. 2006. PMID: 16442122

7

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.

Hecht J, Kuhl H, Haas SA, Bauer S, Poustka AJ, Lienau J, Schell H, Stiege AC, Seitz V, Reinhardt R, Duda GN, Mundlos S, Robinson PN. Hecht J, et al. Among authors: robinson pn. BMC Genomics. 2006 Jul 5;7:172. doi: 10.1186/1471-2164-7-172. BMC Genomics. 2006. PMID: 16822315 Free PMC article.

8

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Among authors: robinson pn. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.

9

Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.

Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Guo G, et al. Among authors: robinson pn. Circulation. 2006 Oct 24;114(17):1855-62. doi: 10.1161/CIRCULATIONAHA.105.601674. Epub 2006 Oct 9. Circulation. 2006. PMID: 17030689

10

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.

Guo G, Bauer S, Hecht J, Schulz MH, Busche A, Robinson PN. Guo G, et al. Among authors: robinson pn. Int J Biochem Cell Biol. 2008;40(4):638-50. doi: 10.1016/j.biocel.2007.09.004. Epub 2007 Oct 2. Int J Biochem Cell Biol. 2008. PMID: 17996480

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