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Results: 1 to 20 of 154

Similar articles for PubMed (Select 24676353)

1.

Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.

Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME.

JAMA Ophthalmol. 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685.

PMID:
24676353
2.

Retinal structure and function in achromatopsia: implications for gene therapy.

Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M.

Ophthalmology. 2014 Jan;121(1):234-45. doi: 10.1016/j.ophtha.2013.08.017. Epub 2013 Oct 20.

3.

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH.

JAMA Ophthalmol. 2014 Apr 1;132(4):437-45. doi: 10.1001/jamaophthalmol.2013.7987.

4.

Novel CNGA3 mutations in Chinese patients with achromatopsia.

Liang X, Dong F, Li H, Li H, Yang L, Sui R.

Br J Ophthalmol. 2015 Apr;99(4):571-6. doi: 10.1136/bjophthalmol-2014-305432. Epub 2015 Jan 30.

PMID:
25637600
5.

Oligocone trichromacy: clinical and molecular genetic investigations.

Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.

Invest Ophthalmol Vis Sci. 2010 Jan;51(1):89-95. doi: 10.1167/iovs.09-3988. Epub 2009 Sep 24.

PMID:
19797231
6.

Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.

McClintock M, Peden MC, Kay CN.

Adv Exp Med Biol. 2014;801:551-7. doi: 10.1007/978-1-4614-3209-8_70.

PMID:
24664743
7.

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

Khan NW, Wissinger B, Kohl S, Sieving PA.

Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71.

PMID:
17652762
8.

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.

Vis Neurosci. 2006 May-Aug;23(3-4):395-402.

PMID:
16961972
9.

Diagnostic fundus autofluorescence patterns in achromatopsia.

Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T.

Am J Ophthalmol. 2013 Dec;156(6):1211-1219.e2. doi: 10.1016/j.ajo.2013.06.033. Epub 2013 Aug 20.

PMID:
23972307
10.

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82.

PMID:
15161866
11.

Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.

Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC.

Retina. 2012 Jul;32(7):1411-9. doi: 10.1097/IAE.0b013e318236e4ea.

PMID:
22466470
12.
13.

Photoreceptor structure and function in patients with congenital achromatopsia.

Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.

Invest Ophthalmol Vis Sci. 2011 Sep 21;52(10):7298-308. doi: 10.1167/iovs.11-7762.

14.

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
15.

Clinical and genetic features of Hungarian achromatopsia patients.

Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A.

Mol Vis. 2005 Nov 17;11:996-1001.

16.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.

17.

Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

Li S, Huang L, Xiao X, Jia X, Guo X, Zhang Q.

JAMA Ophthalmol. 2014 Sep;132(9):1076-83. doi: 10.1001/jamaophthalmol.2014.1032.

PMID:
24903488
18.

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.

JAMA Ophthalmol. 2013 Oct;131(10):1314-23. doi: 10.1001/jamaophthalmol.2013.4476.

PMID:
23929416
19.

Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.

Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA, Gottlob I.

Ophthalmology. 2013 Dec;120(12):2714-24. doi: 10.1016/j.ophtha.2013.07.018. Epub 2013 Oct 22.

PMID:
24161406
20.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

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

Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053. Epub 2009 Jul 9.

PMID:
19592100
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