Sheffield VC - Search Results

1

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.

Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH. Shah SS, et al. Among authors: sheffield vc. Ophthalmic Genet. 2008 Mar;29(1):41-5. doi: 10.1080/13816810701850033. Ophthalmic Genet. 2008. PMID: 18363173

2

The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.

Fingert JH, Kwon YH, Moore PA, Johnston RM, Kim KY, Sheffield VC, Alward WL, Stone EM. Fingert JH, et al. Among authors: sheffield vc. Ophthalmic Genet. 2006 Jun;27(2):39-41. doi: 10.1080/13816810600677883. Ophthalmic Genet. 2006. PMID: 16754204 No abstract available.

3

Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree.

Fingert JH, Grassi MA, Janutka JC, East JS, Howard JG, Sheffield VC, Jacobson DM, Hayreh SS, Stone EM. Fingert JH, et al. Among authors: sheffield vc. Ophthalmic Genet. 2007 Mar;28(1):1-7. doi: 10.1080/13816810701199399. Ophthalmic Genet. 2007. PMID: 17454741

4

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM. Shankar SP, et al. Among authors: sheffield vc. Ophthalmic Genet. 2008 Mar;29(1):17-24. doi: 10.1080/13816810701867607. Ophthalmic Genet. 2008. PMID: 18363168

5

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.

Kanis AB, Al-Rajhi AA, Taylor CM, Mathers WD, Folberg RY, Nishimura DY, Sheffield VC, Stone EM. Kanis AB, et al. Among authors: sheffield vc. Ophthalmic Genet. 1999 Dec;20(4):243-9. doi: 10.1076/opge.20.4.243.2273. Ophthalmic Genet. 1999. PMID: 10617922

6

Myocilin glaucoma.

Fingert JH, Stone EM, Sheffield VC, Alward WL. Fingert JH, et al. Among authors: sheffield vc. Surv Ophthalmol. 2002 Nov-Dec;47(6):547-61. doi: 10.1016/s0039-6257(02)00353-3. Surv Ophthalmol. 2002. PMID: 12504739 Review.

7

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: sheffield vc. Am J Hum Genet. 2005 Dec;77(6):1021-33. doi: 10.1086/498323. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380913 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: sheffield vc. 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

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: sheffield vc. Arch Ophthalmol. 2008 Sep;126(9):1301-7. doi: 10.1001/archopht.126.9.1301. Arch Ophthalmol. 2008. PMID: 18779497

10

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: sheffield vc. 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.

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