Hagstrom SA - Search Results

1

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

Miraldi Utz V, Coussa RG, Marino MJ, Chappelow AV, Pauer GJ, Hagstrom SA, Traboulsi EI. Miraldi Utz V, et al. Among authors: hagstrom sa. Br J Ophthalmol. 2014 Apr;98(4):513-8. doi: 10.1136/bjophthalmol-2013-304270. Epub 2014 Jan 23. Br J Ophthalmol. 2014. PMID: 24457364

2

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

Al-Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi EI. Al-Khayer K, et al. Am J Ophthalmol. 2004 Feb;137(2):375-7. doi: 10.1016/S0002-9394(03)00913-9. Am J Ophthalmol. 2004. PMID: 14962443

3

Retinal degeneration caused by mutations in TULP1.

Xi Q, Pauer GJ, West KA, Crabb JW, Hagstrom SA. Xi Q, et al. Among authors: hagstrom sa. Adv Exp Med Biol. 2003;533:303-8. doi: 10.1007/978-1-4615-0067-4_37. Adv Exp Med Biol. 2003. PMID: 15180277 No abstract available.

4

Color vision testing.

Melamud A, Hagstrom S, Traboulsi E. Melamud A, et al. Ophthalmic Genet. 2004 Sep;25(3):159-87. doi: 10.1080/13816810490498341. Ophthalmic Genet. 2004. PMID: 15512994 Review.

5

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI. Chavala SH, et al. Among authors: hagstrom sa. Br J Ophthalmol. 2005 Aug;89(8):1065-6. doi: 10.1136/bjo.2005.068130. Br J Ophthalmol. 2005. PMID: 16024868 Free PMC article. No abstract available.

6

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. Hagstrom SA, et al. Am J Med Genet A. 2005 Oct 1;138A(2):95-8. doi: 10.1002/ajmg.a.30803. Am J Med Genet A. 2005. PMID: 16145681

7

Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells.

Xi Q, Pauer GJ, Marmorstein AD, Crabb JW, Hagstrom SA. Xi Q, et al. Among authors: hagstrom sa. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4754-61. doi: 10.1167/iovs.05-0693. Invest Ophthalmol Vis Sci. 2005. PMID: 16303976 Free PMC article.

8

Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.

Pauer GJ, Xi Q, Zhang K, Traboulsi EI, Hagstrom SA. Pauer GJ, et al. Among authors: hagstrom sa. Ophthalmic Genet. 2005 Dec;26(4):157-61. doi: 10.1080/13816810500374425. Ophthalmic Genet. 2005. PMID: 16352475

9

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

Xi Q, Pauer GJ, Traboulsi EI, Hagstrom SA. Xi Q, et al. Among authors: hagstrom sa. Exp Eye Res. 2006 Sep;83(3):569-73. doi: 10.1016/j.exer.2006.02.003. Epub 2006 Apr 27. Exp Eye Res. 2006. PMID: 16643894 Free PMC article.

10

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

Melamud A, Shen GQ, Chung D, Xi Q, Simpson E, Li L, Peachey NS, Zegarra H, Hagstrom SA, Wang QK, Traboulsi EI. Melamud A, et al. Among authors: hagstrom sa. J Med Genet. 2006 Jun;43(6):e27. doi: 10.1136/jmg.2005.031518. J Med Genet. 2006. PMID: 16740911 Free PMC article.

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