Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 20

1.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS.

Hum Mutat. 2001;17(1):42-51.

2.
3.

[A molecular biological study on retinitis pigmentosa].

Nakazawa M.

Nippon Ganka Gakkai Zasshi. 1993 Dec;97(12):1394-405. Review. Japanese.

PMID:
7904791
4.

Cone rod dystrophies.

Hamel CP.

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

5.
6.

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.

7.

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.

Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE.

Prog Retin Eye Res. 2008 Mar;27(2):213-35. doi: 10.1016/j.preteyeres.2008.01.002. Epub 2008 Jan 26. Review.

PMID:
18328765
8.

[Molecular cloning of the genes in genetic chorioretinal diseases--positional cloning and the candidate gene approach].

Mashima Y, Saga M, Oguchi Y.

Nippon Ganka Gakkai Zasshi. 1993 Nov;97(11):1253-64. Review. Japanese.

PMID:
8285146
9.

Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.

Cai X, Conley SM, Naash MI.

Adv Exp Med Biol. 2010;664:611-9. doi: 10.1007/978-1-4419-1399-9_70. Review.

10.

Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.

Ding XQ, Naash MI.

Adv Exp Med Biol. 2006;572:141-6. Review. No abstract available.

11.

Signal transduction in the retina and inherited retinopathies.

Shastry BS.

Cell Mol Life Sci. 1997 May;53(5):419-29. Review.

PMID:
9176560
12.

Senior-L√łken 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.

13.

RDS Functional Domains and Dysfunction in Disease.

Stuck MW, Conley SM, Naash MI.

Adv Exp Med Biol. 2016;854:217-22. doi: 10.1007/978-3-319-17121-0_29. Review.

PMID:
26427414
14.

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.

15.

Retinitis Pigmentosa: Progress and Perspective.

Zhang Q.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227. Review.

16.

Perspective on genes and mutations causing retinitis pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Arch Ophthalmol. 2007 Feb;125(2):151-8. Review.

17.

Gene therapy for PRPH2-associated ocular disease: challenges and prospects.

Conley SM, Naash MI.

Cold Spring Harb Perspect Med. 2014 Aug 28;4(11):a017376. doi: 10.1101/cshperspect.a017376. Review.

18.

[Genetic causes of hereditary cone and cone-rod dystrophies].

Kohl S.

Ophthalmologe. 2009 Feb;106(2):109-15. doi: 10.1007/s00347-008-1864-2. Review. German.

PMID:
19184602
19.

[Progress in research on pathogenic genes and gene therapy for inherited retinal diseases].

Zhu L, Cao C, Sun J, Gao T, Liang X, Nie Z, Ji Y, Jiang P, Guan M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):118-123. doi: 10.3760/cma.j.issn.1003-9406.2017.01.028. Review. Chinese.

PMID:
28186610
20.

Rod metabolic demand drives progression in retinopathies.

Lin MK, Kim SH, Zhang L, Tsai YT, Tsang SH.

Taiwan J Ophthalmol. 2015 Jul-Sep;5(3):105-108. doi: 10.1016/j.tjo.2015.06.002. Epub 2015 Aug 25. Review.

Supplemental Content

Support Center