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Items: 1 to 20 of 67

1.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.

PMID:
20079539
2.

A dual role for EDEM1 in the processing of rod opsin.

Kosmaoglou M, Kanuga N, Aguilà M, Garriga P, Cheetham ME.

J Cell Sci. 2009 Dec 15;122(Pt 24):4465-72. doi: 10.1242/jcs.055228. Epub 2009 Nov 24.

3.

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.

Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M.

Proc Natl Acad Sci U S A. 2009 Dec 8;106(49):20948-53. doi: 10.1073/pnas.0910128106. Epub 2009 Nov 23.

5.
6.

Gene therapy for red-green colour blindness in adult primates.

Mancuso K, Hauswirth WW, Li Q, Connor TB, Kuchenbecker JA, Mauck MC, Neitz J, Neitz M.

Nature. 2009 Oct 8;461(7265):784-7. doi: 10.1038/nature08401. Epub 2009 Sep 16.

7.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16.

8.

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.

Br J Ophthalmol. 2009 Sep;93(9):1151-4. doi: 10.1136/bjo.2008.153908. Epub 2009 May 7.

PMID:
19429592
9.

Blue cone monochromacy: causative mutations and associated phenotypes.

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ.

Mol Vis. 2009;15:876-84. Epub 2009 May 1.

10.

ISCEV Standard for full-field clinical electroretinography (2008 update).

Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M; International Society for Clinical Electrophysiology of Vision.

Doc Ophthalmol. 2009 Feb;118(1):69-77. doi: 10.1007/s10633-008-9155-4. Epub 2008 Nov 22.

PMID:
19030905
11.

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.

Mendes HF, Cheetham ME.

Hum Mol Genet. 2008 Oct 1;17(19):3043-54. doi: 10.1093/hmg/ddn202. Epub 2008 Jul 17.

12.

The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.

Stockman A, Smithson HE, Webster AR, Holder GE, Rana NA, Ripamonti C, Sharpe LT.

J Vis. 2008 Jan 17;8(1):10.1-10. doi: 10.1167/8.1.10.

PMID:
18318613
13.

IRE1 signaling affects cell fate during the unfolded protein response.

Lin JH, Li H, Yasumura D, Cohen HR, Zhang C, Panning B, Shokat KM, Lavail MM, Walter P.

Science. 2007 Nov 9;318(5852):944-9.

14.

Gene conversion: mechanisms, evolution and human disease.

Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP.

Nat Rev Genet. 2007 Oct;8(10):762-75. Epub 2007 Sep 11. Review.

PMID:
17846636
15.

The effect of sildenafil citrate (Viagra) on visual sensitivity.

Stockman A, Sharpe LT, Tufail A, Kell PD, Ripamonti C, Jeffery G.

J Vis. 2007 Jun 8;7(8):4.

PMID:
17685811
16.

Residual cone vision without alpha-transducin.

Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT.

J Vis. 2007 Mar 23;7(4):8.

PMID:
17461692
17.

ISCEV standard for clinical pattern electroretinography--2007 update.

Holder GE, Brigell MG, Hawlina M, Meigen T, Vaegan, Bach M; International Society for Clinical Electrophysiology of Vision.

Doc Ophthalmol. 2007 May;114(3):111-6. Epub 2007 Apr 14.

18.

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT.

Surv Ophthalmol. 2006 May-Jun;51(3):232-58. Review.

PMID:
16644365
19.

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT.

J Med Genet. 2006 Aug;43(8):699-704. Epub 2006 Feb 27.

20.

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8.

PMID:
15914600
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