Yashar BM - Search Results

1

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.

2

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.

3

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.

4

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

5

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.

6

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.

7

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

8

Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A. Abecasis GR, et al. Among authors: yashar bm. Am J Hum Genet. 2004 Mar;74(3):482-94. doi: 10.1086/382786. Epub 2004 Feb 16. Am J Hum Genet. 2004. PMID: 14968411 Free PMC article.

9

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A. Zareparsi S, et al. Among authors: yashar bm. Hum Mol Genet. 2005 Jun 1;14(11):1449-55. doi: 10.1093/hmg/ddi154. Epub 2005 Apr 13. Hum Mol Genet. 2005. PMID: 15829498

10

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS. Iannaccone A, et al. Among authors: yashar bm. Vision Res. 2006 Oct;46(22):3845-52. doi: 10.1016/j.visres.2006.06.011. Epub 2006 Aug 1. Vision Res. 2006. PMID: 16884758 Free article.

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