Affatigato LM - Search Results

1

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Alward WL, et al. Among authors: affatigato lm. Am J Ophthalmol. 2003 Nov;136(5):904-10. doi: 10.1016/s0002-9394(03)00577-4. Am J Ophthalmol. 2003. PMID: 14597044

2

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Swain PK, et al. Among authors: affatigato lm. Neuron. 1997 Dec;19(6):1329-36. doi: 10.1016/s0896-6273(00)80423-7. Neuron. 1997. PMID: 9427255 Free article.

3

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR. Jacobson SG, et al. Among authors: affatigato lm. Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2417-26. Invest Ophthalmol Vis Sci. 1998. PMID: 9804150

4

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: affatigato lm. Invest Ophthalmol Vis Sci. 2000 May;41(6):1291-6. Invest Ophthalmol Vis Sci. 2000. PMID: 10798642

5

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM. Jacobson SG, et al. Among authors: affatigato lm. Invest Ophthalmol Vis Sci. 2000 Jun;41(7):1898-908. Invest Ophthalmol Vis Sci. 2000. PMID: 10845615

6

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

Lotery AJ, Derksen TA, Russell SR, Mullins RF, Sauter S, Affatigato LM, Stone EM, Davidson BL. Lotery AJ, et al. Among authors: affatigato lm. Hum Gene Ther. 2002 Apr 10;13(6):689-96. doi: 10.1089/104303402317322258. Hum Gene Ther. 2002. PMID: 11936968

7

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

Sokal I, Dupps WJ, Grassi MA, Brown J Jr, Affatigato LM, Roychowdhury N, Yang L, Filipek S, Palczewski K, Stone EM, Baehr W. Sokal I, et al. Among authors: affatigato lm. Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1124-32. doi: 10.1167/iovs.04-1431. Invest Ophthalmol Vis Sci. 2005. PMID: 15790869 Free PMC article.

8

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. Fingert JH, et al. Among authors: affatigato lm. Am J Ophthalmol. 2007 May;143(5):795-800. doi: 10.1016/j.ajo.2007.01.042. Epub 2007 Mar 19. Am J Ophthalmol. 2007. PMID: 17368552 Free PMC article.

9

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

Schindler EI, Nylen EL, Ko AC, Affatigato LM, Heggen AC, Wang K, Sheffield VC, Stone EM. Schindler EI, et al. Among authors: affatigato lm. Hum Mol Genet. 2010 Oct 1;19(19):3693-701. doi: 10.1093/hmg/ddq284. Epub 2010 Jul 20. Hum Mol Genet. 2010. PMID: 20647261 Free PMC article.

10

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

Stone EM, Luo X, Héon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG. Stone EM, et al. Among authors: affatigato lm. Invest Ophthalmol Vis Sci. 2011 Dec 28;52(13):9665-73. doi: 10.1167/iovs.11-8527. Invest Ophthalmol Vis Sci. 2011. PMID: 22110072 Free PMC article.

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