Stone EM - Search Results

1

The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene.

Genead MA, Fishman GA, Stone EM, Allikmets R. Genead MA, et al. Among authors: stone em. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5867-71. doi: 10.1167/iovs.09-3611. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578016

2

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC. Fishman GA, et al. Among authors: stone em. Arch Ophthalmol. 1992 Nov;110(11):1582-8. doi: 10.1001/archopht.1992.01080230082026. Arch Ophthalmol. 1992. PMID: 1444916

3

Avellino corneal dystrophy. Clinical manifestations and natural history.

Holland EJ, Daya SM, Stone EM, Folberg R, Dobler AA, Cameron JD, Doughman DJ. Holland EJ, et al. Among authors: stone em. Ophthalmology. 1992 Oct;99(10):1564-8. doi: 10.1016/s0161-6420(92)31766-x. Ophthalmology. 1992. PMID: 1454323

4

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Sheffield VC. Fishman GA, et al. Among authors: stone em. Arch Ophthalmol. 1992 May;110(5):646-53. doi: 10.1001/archopht.1992.01080170068026. Arch Ophthalmol. 1992. PMID: 1580841

5

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: stone em. Arch Ophthalmol. 1992 Jan;110(1):54-62. doi: 10.1001/archopht.1992.01080130056026. Arch Ophthalmol. 1992. PMID: 1731723

6

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. Ophthalmology. 1991 Dec;98(12):1806-13. doi: 10.1016/s0161-6420(91)32046-3. Ophthalmology. 1991. PMID: 1775314

7

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: stone em. Am J Hum Genet. 1991 Oct;49(4):699-706. Am J Hum Genet. 1991. PMID: 1897520 Free PMC article.

8

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Fishman GA, et al. Among authors: stone em. Arch Ophthalmol. 1991 Oct;109(10):1387-93. doi: 10.1001/archopht.1991.01080100067044. Arch Ophthalmol. 1991. PMID: 1929926

9

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: stone em. Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3154-62. Invest Ophthalmol Vis Sci. 1994. PMID: 8045710

10

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Fishman GA, et al. Ophthalmology. 1994 Aug;101(8):1409-21. doi: 10.1016/s0161-6420(94)31156-0. Ophthalmology. 1994. PMID: 8058286

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