Sheffield VC - Search Results

1

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM. Mahajan VB, et al. Among authors: sheffield vc. PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4. PLoS Genet. 2012. PMID: 23055945 Free PMC article.

2

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.

3

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.

4

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

5

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

6

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

7

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

8

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.

Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Pretorius PR, et al. Among authors: sheffield vc. PLoS Genet. 2010 Mar 19;6(3):e1000884. doi: 10.1371/journal.pgen.1000884. PLoS Genet. 2010. PMID: 20333246 Free PMC article.

9

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Nishimura DY, et al. Among authors: sheffield vc. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398886 Free PMC article.

10

Genome-wide analysis of copy number variants in age-related macular degeneration.

Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Meyer KJ, et al. Among authors: sheffield vc. Hum Genet. 2011 Jan;129(1):91-100. doi: 10.1007/s00439-010-0904-6. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981449 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

359 results

Search Page