Holder GE - Search Results

1

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: holder ge. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.

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

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE. Stanga PE, et al. Among authors: holder ge. Retina. 2001;21(1):78-80. doi: 10.1097/00006982-200102000-00019. Retina. 2001. PMID: 11217940 No abstract available.

7

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

8

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.

9

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.

10

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. Michaelides M, et al. Among authors: holder ge. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

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