Yashar BM - Search Results

1

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: yashar bm. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.

2

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Hiriyanna KT, et al. Among authors: yashar bm. Hum Mutat. 1999;14(5):423-7. doi: 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D. Hum Mutat. 1999. PMID: 10533068 Free article.

3

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

Sieving PA, Yashar BM, Ayyagari R. Sieving PA, et al. Among authors: yashar bm. Trans Am Ophthalmol Soc. 1999;97:451-64; discussion 464-9. Trans Am Ophthalmol Soc. 1999. PMID: 10703138 Free PMC article.

4

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. Mears AJ, et al. Am J Hum Genet. 2000 Oct;67(4):1000-3. doi: 10.1086/303091. Epub 2000 Sep 1. Am J Hum Genet. 2000. PMID: 10970770 Free PMC article.

5

Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.

Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R. Ayyagari R, et al. Among authors: yashar bm. Ophthalmic Genet. 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219. Ophthalmic Genet. 2001. PMID: 11803489

6

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: yashar bm. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.

7

Microarray analysis of gene expression in the aging human retina.

Yoshida S, Yashar BM, Hiriyanna S, Swaroop A. Yoshida S, et al. Among authors: yashar bm. Invest Ophthalmol Vis Sci. 2002 Aug;43(8):2554-60. Invest Ophthalmol Vis Sci. 2002. PMID: 12147584

8

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH. Aguirre GD, et al. Among authors: yashar bm. Exp Eye Res. 2002 Oct;75(4):431-43. Exp Eye Res. 2002. PMID: 12387791

9

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Acar C, et al. Among authors: yashar bm. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

10

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Andréasson S, et al. Among authors: yashar bm. Ophthalmic Genet. 2003 Dec;24(4):215-23. doi: 10.1076/opge.24.4.215.17228. Ophthalmic Genet. 2003. PMID: 14566651

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