Stone EM - 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: stone em. 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. 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. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

4

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

5

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: stone em. Arch Ophthalmol. 1992 Nov;110(11):1589-93. doi: 10.1001/archopht.1992.01080230089027. Arch Ophthalmol. 1992. PMID: 1444917

6

Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis.

Sheffield VC, Beck JS, Nichols B, Cousineau A, Lidral AC, Stone EM. Sheffield VC, et al. Among authors: stone em. Am J Hum Genet. 1992 Mar;50(3):567-75. Am J Hum Genet. 1992. PMID: 1539594 Free PMC article.

7

A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA.

Sheffield VC, Beck JS, Stone EM, Myers RM. Sheffield VC, et al. Among authors: stone em. Biotechniques. 1992 Mar;12(3):386-8. Biotechniques. 1992. PMID: 1571147 No abstract available.

8

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

9

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

10

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

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