Kimura AE - Search Results

1

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Nichols BE, et al. Among authors: kimura ae. Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202. Nat Genet. 1993. PMID: 8485574

2

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Stone EM, et al. Among authors: kimura ae. Hum Mol Genet. 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. Hum Mol Genet. 1992. PMID: 1284594

3

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.

Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Stone EM, et al. Among authors: kimura ae. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

4

Procollagen II gene mutation in Stickler syndrome.

Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Brown DM, et al. Among authors: kimura ae. Arch Ophthalmol. 1992 Nov;110(11):1589-93. doi: 10.1001/archopht.1992.01080230089027. Arch Ophthalmol. 1992. PMID: 1444917

5

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.

Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC. Stone EM, et al. Among authors: kimura ae. Ophthalmology. 1991 Dec;98(12):1806-13. doi: 10.1016/s0161-6420(91)32046-3. Ophthalmology. 1991. PMID: 1775314

6

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM. Sheffield VC, et al. Among authors: kimura ae. Am J Hum Genet. 1991 Oct;49(4):699-706. Am J Hum Genet. 1991. PMID: 1897520 Free PMC article.

7

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.

Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Stone EM, et al. Among authors: kimura ae. Arch Ophthalmol. 1994 Jun;112(6):765-72. doi: 10.1001/archopht.1994.01090180063036. Arch Ophthalmol. 1994. PMID: 8002834

8

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.

Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM. Kemp CM, et al. Among authors: kimura ae. Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3154-62. Invest Ophthalmol Vis Sci. 1994. PMID: 8045710

9

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. Nichols BE, et al. Among authors: kimura ae. Hum Mol Genet. 1993 May;2(5):601-3. doi: 10.1093/hmg/2.5.601. Hum Mol Genet. 1993. PMID: 8251014 No abstract available.

10

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE. Fishman GA, et al. Among authors: kimura ae. Arch Ophthalmol. 1992 Jan;110(1):54-62. doi: 10.1001/archopht.1992.01080130056026. Arch Ophthalmol. 1992. PMID: 1731723

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