Swaroop A - Search Results

1

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.

Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, Qian H, Li T, Khanna H, Colosi P, Swaroop A, Wu Z. Mookherjee S, et al. Among authors: swaroop a. Hum Mol Genet. 2015 Nov 15;24(22):6446-58. doi: 10.1093/hmg/ddv354. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358772 Free PMC article.

2

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A. Fujita R, et al. Among authors: swaroop a. Am J Hum Genet. 1997 Sep;61(3):571-80. doi: 10.1086/515523. Am J Hum Genet. 1997. PMID: 9326322 Free PMC article.

3

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Jacobson SG, et al. Among authors: swaroop a. Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97. Invest Ophthalmol Vis Sci. 1997. PMID: 9331262

4

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. Buraczynska M, et al. Among authors: swaroop a. Am J Hum Genet. 1997 Dec;61(6):1287-92. doi: 10.1086/301646. Am J Hum Genet. 1997. PMID: 9399904 Free PMC article.

5

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Among authors: swaroop a. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.

6

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Mears AJ, et al. Among authors: swaroop a. Am J Hum Genet. 1999 Mar;64(3):897-900. doi: 10.1086/302298. Am J Hum Genet. 1999. PMID: 10053026 Free PMC article. No abstract available.

7

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. Among authors: swaroop a. 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.

8

Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

Guevara-Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, Vicencio C, Pena M, Fishman G, Mintz-Hittner H, Birch D, Hoffman D, Mears A, Fujita R, Swaroop A. Guevara-Fujita M, et al. Among authors: swaroop a. Hum Mutat. 2001 Feb;17(2):151. doi: 10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W. Hum Mutat. 2001. PMID: 11180598 Free article.

9

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: swaroop a. Ophthalmic Genet. 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219. Ophthalmic Genet. 2001. PMID: 11803489

10

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: swaroop a. 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.

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