Robson AG - Search Results

1

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: robson ag. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191

2

Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

Robson AG, El-Amir A, Bailey C, Egan CA, Fitzke FW, Webster AR, Bird AC, Holder GE. Robson AG, et al. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3544-50. doi: 10.1167/iovs.02-1278. Invest Ophthalmol Vis Sci. 2003. PMID: 12882805

3

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

Robson AG, Saihan Z, Jenkins SA, Fitzke FW, Bird AC, Webster AR, Holder GE. Robson AG, et al. Br J Ophthalmol. 2006 Apr;90(4):472-9. doi: 10.1136/bjo.2005.082487. Br J Ophthalmol. 2006. PMID: 16547330 Free PMC article.

4

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: robson ag. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.

5

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M. Scott A, et al. Among authors: robson ag. Am J Ophthalmol. 2007 Feb;143(2):346-8. doi: 10.1016/j.ajo.2006.09.022. Epub 2006 Oct 23. Am J Ophthalmol. 2007. PMID: 17258529

6

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy.

Vaclavik V, Ooi KG, Bird AC, Robson AG, Holder GE, Webster AR. Vaclavik V, et al. Among authors: robson ag. Arch Ophthalmol. 2007 Feb;125(2):274-7. doi: 10.1001/archopht.125.2.274. Arch Ophthalmol. 2007. PMID: 17296907 No abstract available.

7

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Audo I, et al. Among authors: robson ag. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. doi: 10.1167/iovs.05-1604. Invest Ophthalmol Vis Sci. 2007. PMID: 17724214

8

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW. Robson AG, et al. Br J Ophthalmol. 2008 Jan;92(1):95-102. doi: 10.1136/bjo.2007.124008. Epub 2007 Oct 25. Br J Ophthalmol. 2008. PMID: 17962389

9

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.

Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE. Robson AG, et al. Doc Ophthalmol. 2008 Mar;116(2):79-89. doi: 10.1007/s10633-007-9087-4. Epub 2007 Nov 6. Doc Ophthalmol. 2008. PMID: 17985165 Free PMC article. Review.

10

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: robson ag. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.

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