Jenkins SA - Search Results

1

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Waseem NH, et al. Among authors: jenkins sa. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4. doi: 10.1167/iovs.06-0963. Invest Ophthalmol Vis Sci. 2007. PMID: 17325180

2

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR. Michaelides M, et al. Among authors: jenkins sa. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3085-97. doi: 10.1167/iovs.05-1600. Invest Ophthalmol Vis Sci. 2006. PMID: 16799055

3

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

Tschernutter M, Jenkins SA, Waseem NH, Saihan Z, Holder GE, Bird AC, Bhattacharya SS, Ali RR, Webster AR. Tschernutter M, et al. Among authors: jenkins sa. Br J Ophthalmol. 2006 Jun;90(6):718-23. doi: 10.1136/bjo.2005.084897. Br J Ophthalmol. 2006. PMID: 16714263 Free PMC article.

4

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. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

5

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: jenkins sa. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

6

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: jenkins sa. 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.

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

9

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

Michaelides M, Chen LL, Brantley MA Jr, Andorf JL, Isaak EM, Jenkins SA, Holder GE, Bird AC, Stone EM, Webster AR. Michaelides M, et al. Among authors: jenkins sa. Br J Ophthalmol. 2007 Dec;91(12):1650-5. doi: 10.1136/bjo.2007.118356. Br J Ophthalmol. 2007. PMID: 18024811 Free PMC article.

10

Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness.

Bellmann C, Neveu MM, Scholl HP, Hogg CR, Rath PP, Jenkins S, Bird AC, Holder GE. Bellmann C, et al. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2355-60. doi: 10.1167/iovs.03-1090. Invest Ophthalmol Vis Sci. 2004. PMID: 15223817

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