Holder GE - Search Results

1

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. Davidson AE, et al. Among authors: holder ge. Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17. Hum Mutat. 2013. PMID: 23281133

2

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. Payne AM, et al. Among authors: holder ge. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

3

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Votruba M, et al. Among authors: holder ge. Arch Ophthalmol. 1998 Mar;116(3):351-8. doi: 10.1001/archopht.116.3.351. Arch Ophthalmol. 1998. PMID: 9514489

4

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: holder ge. Am J Hum Genet. 1998 Jul;63(1):274-9. doi: 10.1086/301905. Am J Hum Genet. 1998. PMID: 9634506 Free PMC article. No abstract available.

5

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.

Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT. Holder GE, et al. Doc Ophthalmol. 1998-1999;95(3-4):217-28. doi: 10.1023/a:1001844021014. Doc Ophthalmol. 1998. PMID: 10532406

6

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: holder ge. Arch Ophthalmol. 1999 Oct;117(10):1373-83. doi: 10.1001/archopht.117.10.1373. Arch Ophthalmol. 1999. PMID: 10532447

7

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Among authors: holder ge. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

8

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Among authors: holder ge. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

9

Inherited retinal dystrophy and asymmetric axial length.

Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S. Francis P, et al. Br J Ophthalmol. 2003 Apr;87(4):503-4. doi: 10.1136/bjo.87.4.503. Br J Ophthalmol. 2003. PMID: 12642322 Free PMC article. No abstract available.

10

Pattern ERG: clinical overview, and some observations on associated fundus autofluorescence imaging in inherited maculopathy.

Holder GE, Robson AG, Hogg CR, Kurz-Levin M, Lois N, Bird AC. Holder GE, et al. Doc Ophthalmol. 2003 Jan;106(1):17-23. doi: 10.1023/a:1022471623467. Doc Ophthalmol. 2003. PMID: 12675481 Review. No abstract available.

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