Pauer GJ - Search Results

1

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI. London NJ, et al. Among authors: pauer gj. Mol Vis. 2009;15:162-7. Epub 2009 Jan 21. Mol Vis. 2009. PMID: 19158959 Free PMC article.

2

Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.

Narendra U, Pauer GJ, Hagstrom SA. Narendra U, et al. Among authors: pauer gj. Mol Vis. 2009;15:731-6. Epub 2009 Apr 10. Mol Vis. 2009. PMID: 19365580 Free PMC article.

3

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. Among authors: pauer gj. 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

4

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. Ophthalmic Genet. 2005 Dec;26(4):157-61. doi: 10.1080/13816810500374425. Ophthalmic Genet. 2005. PMID: 16352475

5

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: pauer gj. 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.

6

Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration.

Sturgill GM, Pauer GJ, Bala E, Simpson E, Yaniglos SS, Crabb JW, Hollyfield JG, Lewis H, Peachey NS, Hagstrom SA. Sturgill GM, et al. Among authors: pauer gj. Ophthalmic Genet. 2006 Dec;27(4):151-5. doi: 10.1080/13816810600976871. Ophthalmic Genet. 2006. PMID: 17148042 Free PMC article.

7

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Pauer GJ, Beight CD, Chiang J, Traboulsi EI, Hollyfield JG, Hagstrom SA. Bonilha VL, et al. Among authors: pauer gj. Graefes Arch Clin Exp Ophthalmol. 2015 Feb;253(2):295-305. doi: 10.1007/s00417-014-2868-z. Epub 2014 Dec 11. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 25491159 Free PMC article.

8

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Beight CD, Pauer GJ, Traboulsi EI, Hollyfield JG, Hagstrom SA. Bonilha VL, et al. Among authors: pauer gj. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2161-9. doi: 10.1007/s00417-015-3099-7. Epub 2015 Jul 23. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 26202387 Free PMC article.

9

Retinal degeneration caused by mutations in TULP1.

Xi Q, Pauer GJ, West KA, Crabb JW, Hagstrom SA. Xi Q, et al. Among authors: pauer gj. 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.

10

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

Pauer GJ, Sturgill GM, Peachey NS, Hagstrom SA; Clinical Genomic And Proteomic AMD Study Group. Pauer GJ, et al. Am J Ophthalmol. 2010 Mar;149(3):513-22. doi: 10.1016/j.ajo.2009.09.024. Epub 2009 Dec 30. Am J Ophthalmol. 2010. PMID: 20042177 Free PMC article.

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