Drack AV - Search Results

1

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA. McAnany JJ, et al. Among authors: drack av. JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354. JAMA Ophthalmol. 2013. PMID: 23411883 Free PMC article.

2

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration.

Drack AV, Traboulsi EI, Maumenee IH. Drack AV, et al. Arch Ophthalmol. 1992 May;110(5):712-3. doi: 10.1001/archopht.1992.01080170134041. Arch Ophthalmol. 1992. PMID: 1580852 No abstract available.

3

Systemic associations of pigmentary retinopathy.

Drack AV, Traboulsi EI. Drack AV, et al. Int Ophthalmol Clin. 1991 Summer;31(3):35-59. doi: 10.1097/00004397-199103130-00006. Int Ophthalmol Clin. 1991. PMID: 1880001 Review. No abstract available.

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

5

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. Among authors: drack av. 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.

6

Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.

Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WL. Johnson AT, et al. Among authors: drack av. Ophthalmology. 1993 Apr;100(4):524-9. doi: 10.1016/s0161-6420(13)31615-7. Ophthalmology. 1993. PMID: 8479711

7

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

8

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: drack av. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

9

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Drack AV, Johnston R, Stone EM. Drack AV, et al. J AAPOS. 2009 Oct;13(5):463-5. doi: 10.1016/j.jaapos.2009.08.006. J AAPOS. 2009. PMID: 19840725 Free PMC article.

10

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Walia S, et al. Ophthalmology. 2010 Jun;117(6):1190-8. doi: 10.1016/j.ophtha.2009.09.056. Epub 2010 Jan 15. Ophthalmology. 2010. PMID: 20079931

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