Fitzke FW - Search Results

1

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: fitzke fw. Arch Ophthalmol. 1998 Mar;116(3):351-8. doi: 10.1001/archopht.116.3.351. Arch Ophthalmol. 1998. PMID: 9514489

2

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Bessant DA, et al. Among authors: fitzke fw. Arch Ophthalmol. 2003 Jun;121(6):793-802. doi: 10.1001/archopht.121.6.793. Arch Ophthalmol. 2003. PMID: 12796249

3

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: fitzke fw. Arch Ophthalmol. 1995 Apr;113(4):451-5. doi: 10.1001/archopht.1995.01100040067029. Arch Ophthalmol. 1995. PMID: 7710395

4

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.

Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Evans K, et al. Among authors: fitzke fw. Arch Ophthalmol. 1995 Feb;113(2):195-201. doi: 10.1001/archopht.1995.01100020079033. Arch Ophthalmol. 1995. PMID: 7864751

5

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: fitzke fw. Br J Ophthalmol. 1995 Jan;79(1):23-7. doi: 10.1136/bjo.79.1.23. Br J Ophthalmol. 1995. PMID: 7880785 Free PMC article.

6

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

Kim RY, al-Maghtheh M, Fitzke FW, Arden GB, Jay M, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: fitzke fw. Arch Ophthalmol. 1993 Nov;111(11):1518-24. doi: 10.1001/archopht.1993.01090110084030. Arch Ophthalmol. 1993. PMID: 8240108

7

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. Among authors: fitzke fw. Doc Ophthalmol. 1998-1999;95(3-4):217-28. doi: 10.1023/a:1001844021014. Doc Ophthalmol. 1998. PMID: 10532406

8

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: fitzke fw. Arch Ophthalmol. 1999 Oct;117(10):1373-83. doi: 10.1001/archopht.117.10.1373. Arch Ophthalmol. 1999. PMID: 10532447

9

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: fitzke fw. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

10

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: fitzke fw. Arch Ophthalmol. 2001 Jan;119(1):96-105. Arch Ophthalmol. 2001. PMID: 11146732

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