Webster AR - Search Results

1

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: webster ar. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.

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. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3544-50. doi: 10.1167/iovs.02-1278. Invest Ophthalmol Vis Sci. 2003. PMID: 12882805

3

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ. Dandekar SS, et al. Among authors: webster ar. Br J Ophthalmol. 2004 Apr;88(4):528-32. doi: 10.1136/bjo.2003.027979. Br J Ophthalmol. 2004. PMID: 15031171 Free PMC article.

4

Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.

Kabanarou SA, Holder GE, Fitzke FW, Bird AC, Webster AR. Kabanarou SA, et al. Among authors: webster ar. Br J Ophthalmol. 2004 Aug;88(8):1018-22. doi: 10.1136/bjo.2003.033555. Br J Ophthalmol. 2004. PMID: 15258017 Free PMC article.

5

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT. Michaelides M, et al. Among authors: webster ar. Br J Ophthalmol. 2005 Mar;89(3):332-9. doi: 10.1136/bjo.2004.050567. Br J Ophthalmol. 2005. PMID: 15722315 Free PMC article.

6

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

7

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Michaelides M, et al. Among authors: webster ar. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

8

Functional observations in vitamin A deficiency: diagnosis and time course of recovery.

McBain VA, Egan CA, Pieris SJ, Supramaniam G, Webster AR, Bird AC, Holder GE. McBain VA, et al. Among authors: webster ar. Eye (Lond). 2007 Mar;21(3):367-76. doi: 10.1038/sj.eye.6702212. Epub 2005 Dec 9. Eye (Lond). 2007. PMID: 16341129

9

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. Among authors: webster ar. Br J Ophthalmol. 2006 Apr;90(4):472-9. doi: 10.1136/bjo.2005.082487. Br J Ophthalmol. 2006. PMID: 16547330 Free PMC article.

10

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: webster ar. 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.

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