Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

307 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
Horn D, Robinson PN. Horn D, et al. Among authors: robinson pn. Am J Med Genet A. 2011 Apr;155A(4):721-4. doi: 10.1002/ajmg.a.33905. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594993
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
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
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.
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
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
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
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.
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
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
307 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page