Nichols BE - Search Results

1

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

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: nichols be. Hum Mol Genet. 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. Hum Mol Genet. 1992. PMID: 1284594

3

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

4

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: nichols be. Arch Ophthalmol. 1994 Jun;112(6):765-72. doi: 10.1001/archopht.1994.01090180063036. Arch Ophthalmol. 1994. PMID: 8002834

5

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM. Nichols BE, et al. Am J Hum Genet. 1994 Jan;54(1):95-103. Am J Hum Genet. 1994. PMID: 8279475 Free PMC article.

6

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. Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202. Nat Genet. 1993. PMID: 8485574

7

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. Am J Hum Genet. 1992 Mar;50(3):567-75. Am J Hum Genet. 1992. PMID: 1539594 Free PMC article.

8

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: nichols be. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

9

A user-friendly Hypercard interface for human linkage analysis.

Nichols BE, Sheffield VC, Stone EM. Nichols BE, et al. Comput Appl Biosci. 1993 Dec;9(6):757-9. doi: 10.1093/bioinformatics/9.6.757. Comput Appl Biosci. 1993. PMID: 8143163

10

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. 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.

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