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Items: 1 to 20 of 21

1.
2.

Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Tran NM, Chen S.

Dev Dyn. 2014 Oct;243(10):1153-66. doi: 10.1002/dvdy.24151. Epub 2014 Jun 27. Review.

3.

Cone rod dystrophies.

Hamel CP.

Orphanet J Rare Dis. 2007 Feb 1;2:7. Review.

4.

Prospects for retinal gene replacement therapy.

Smith AJ, Bainbridge JW, Ali RR.

Trends Genet. 2009 Apr;25(4):156-65. doi: 10.1016/j.tig.2009.02.003. Epub 2009 Mar 18. Review.

PMID:
19303164
5.

[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].

Hanein S, Perrault I, Gerber S, Tanguy G, Hamel C, Dufier JL, Rozet JM, Kaplan J.

J Fr Ophtalmol. 2005 Jan;28(1):98-105. Review. French.

6.

[From gene to disease; Leber congenital amaurosis (LCA)].

Yzer S, van den Born LI, Cremers FP, den Hollander AI.

Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Review. Dutch.

PMID:
16261712
7.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
8.

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.

PMID:
17320181
9.

[Early therapeutic trials for retinitis pigmentosa].

Dufier JL.

Bull Acad Natl Med. 2003;187(9):1685-92; discussion 1692-4. Review. French.

PMID:
15369238
10.

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF.

Hum Mutat. 2002 May;19(5):486-500. Review.

PMID:
11968081
11.

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB.

Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Review. Dutch.

PMID:
12224481
12.

Missense mutations of human homeoboxes: A review.

D'Elia AV, Tell G, Paron I, Pellizzari L, Lonigro R, Damante G.

Hum Mutat. 2001 Nov;18(5):361-74. Review. Erratum in: Hum Mutat 2002 Apr;19(4):457.

PMID:
11668629
13.
14.
15.

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Ronquillo CC, Bernstein PS, Baehr W.

Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. Review.

16.

Identifying retinal disease genes: how far have we come, how far do we have to go?

Daiger SP.

Novartis Found Symp. 2004;255:17-27; discussion 27-36, 177-8. Review.

17.

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM.

J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. Review.

18.

Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.

McGrew DA, Hedstrom L.

Adv Exp Med Biol. 2012;723:539-45. doi: 10.1007/978-1-4614-0631-0_68. Review.

PMID:
22183375
19.

The differential diagnosis of visual disorders in patients presenting with marked symptoms but with no observable ocular abnormality.

Sherman J, Richter SJ, Epstein A.

Am J Optom Physiol Opt. 1980 Aug;57(8):516-22. Review.

PMID:
7006401
20.

Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

Mackey DA, Kearns LS, Hewitt AW.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):253-5. doi: 10.1097/APO.0000000000000220. Review.

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