Robinson PN - Search Results

1

Walking the interactome for prioritization of candidate disease genes.

Köhler S, Bauer S, Horn D, Robinson PN. Köhler S, et al. Among authors: robinson pn. Am J Hum Genet. 2008 Apr;82(4):949-58. doi: 10.1016/j.ajhg.2008.02.013. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371930 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

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

Booms P, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, Robinson PN. Booms P, et al. Among authors: robinson pn. Hum Genet. 1997 Aug;100(2):195-200. doi: 10.1007/s004390050489. Hum Genet. 1997. PMID: 9254848

4

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

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

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.

7

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.

8

Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.

Grossmann S, Bauer S, Robinson PN, Vingron M. Grossmann S, et al. Among authors: robinson pn. Bioinformatics. 2007 Nov 15;23(22):3024-31. doi: 10.1093/bioinformatics/btm440. Epub 2007 Sep 11. Bioinformatics. 2007. PMID: 17848398

9

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

10

The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.

Schulz MH, Bauer S, Robinson PN. Schulz MH, et al. Among authors: robinson pn. Int J Bioinform Res Appl. 2008;4(1):81-95. doi: 10.1504/IJBRA.2008.017165. Int J Bioinform Res Appl. 2008. PMID: 18283030

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