Robinson PN - Search Results

1

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. Krawitz PM, et al. Among authors: robinson pn. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011. Am J Hum Genet. 2013. PMID: 23561847 Free PMC article.

2

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

Robinson PN, Böddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P. Robinson PN, et al. Hum Genet. 1995 Jul;96(1):95-8. doi: 10.1007/BF00214193. Hum Genet. 1995. PMID: 7607663

3

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

4

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

5

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

Booms P, Tiecke F, Rosenberg T, Hagemeier C, Robinson PN. Booms P, et al. Among authors: robinson pn. Hum Genet. 2000 Sep;107(3):216-24. doi: 10.1007/s004390000368. Hum Genet. 2000. PMID: 11071382

6

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Tiecke F, et al. Among authors: robinson pn. Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. Eur J Hum Genet. 2001. PMID: 11175294

7

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

8

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

9

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

10

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Robinson PN, et al. Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. Am J Med Genet A. 2005. PMID: 15884042

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