Sieving PA - Search Results

1

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: sieving pa. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.

2

P23H rhodopsin transgenic rat: correlation of retinal function with histopathology.

Machida S, Kondo M, Jamison JA, Khan NW, Kononen LT, Sugawara T, Bush RA, Sieving PA. Machida S, et al. Among authors: sieving pa. Invest Ophthalmol Vis Sci. 2000 Sep;41(10):3200-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10967084

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. Among authors: sieving pa. 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

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Thompson DA, et al. Among authors: sieving pa. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9. Invest Ophthalmol Vis Sci. 2000. PMID: 11095629

5

Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy.

Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. Sieving PA, et al. Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):1835-40. doi: 10.1073/pnas.98.4.1835. Epub 2001 Feb 6. Proc Natl Acad Sci U S A. 2001. PMID: 11172037 Free PMC article.

6

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. Thompson DA, et al. Among authors: sieving pa. Nat Genet. 2001 Jun;28(2):123-4. doi: 10.1038/88828. Nat Genet. 2001. PMID: 11381255

7

Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis.

Khan NW, Jamison JA, Kemp JA, Sieving PA. Khan NW, et al. Among authors: sieving pa. Vision Res. 2001 Dec;41(28):3931-42. doi: 10.1016/s0042-6989(01)00188-2. Vision Res. 2001. PMID: 11738458 Free article.

8

Clinical course and visual function in a family with mutations in the RPE65 gene.

Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA. Felius J, et al. Among authors: sieving pa. Arch Ophthalmol. 2002 Jan;120(1):55-61. doi: 10.1001/archopht.120.1.55. Arch Ophthalmol. 2002. PMID: 11786058

9

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: sieving pa. 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.

10

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: sieving pa. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

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