Robinson PN - Search Results

1

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

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

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

Böddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P. Böddrich A, et al. Among authors: robinson pn. Hum Mutat. 1997;9(4):374-7. doi: 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9101303 No abstract available.

4

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis.

Gille C, Gille A, Booms P, Robinson PN, Nürnberg P. Gille C, et al. Among authors: robinson pn. Electrophoresis. 1998 Jun;19(8-9):1347-50. doi: 10.1002/elps.1150190824. Electrophoresis. 1998. PMID: 9694279

5

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Booms P, et al. Among authors: robinson pn. Clin Genet. 1999 Feb;55(2):110-7. doi: 10.1034/j.1399-0004.1999.550207.x. Clin Genet. 1999. PMID: 10189088

6

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M. Robinson PN, et al. J Med Genet. 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. J Med Genet. 2000. PMID: 10633129 Free PMC article. Review.

7

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. Palz M, et al. Among authors: robinson pn. Am J Med Genet. 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10756346

8

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

9

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

10

The molecular pathogenesis of the Marfan syndrome.

Robinson PN, Booms P. Robinson PN, et al. Cell Mol Life Sci. 2001 Oct;58(11):1698-707. doi: 10.1007/pl00000807. Cell Mol Life Sci. 2001. PMID: 11706995 Free PMC article. Review.

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