Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2020 1
2022 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
RP1L1 and inherited photoreceptor disease: A review.
Noel NCL, MacDonald IM. Noel NCL, et al. Surv Ophthalmol. 2020 Nov-Dec;65(6):725-739. doi: 10.1016/j.survophthal.2020.04.005. Epub 2020 Apr 30. Surv Ophthalmol. 2020. PMID: 32360662 Free article. Review.
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of the photoreceptor cilium. ...
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of the photoreceptor cilium. ...
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Barde …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
Research progress of RP1L1 gene in disease.
Liu J, Hayden MR, Yang Y. Liu J, et al. Gene. 2024 Jun 20;912:148367. doi: 10.1016/j.gene.2024.148367. Epub 2024 Mar 12. Gene. 2024. PMID: 38485037 Free article. Review.
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of photoreceptor cilia. ...
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of photoreceptor cilia. ...
Occult Macular Dystrophy: a case report and major review.
Luoma-Overstreet G, Jewell A, Brar V, Couser N. Luoma-Overstreet G, et al. Ophthalmic Genet. 2022 Oct;43(5):703-708. doi: 10.1080/13816810.2022.2089361. Epub 2022 Jun 29. Ophthalmic Genet. 2022. PMID: 35765812 Review.
BACKGROUND: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of fundoscopic abnormalities. ...
BACKGROUND: Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa …
A novel missense RP1 mutation in retinitis pigmentosa.
Chiang SW, Wang DY, Chan WM, Tam PO, Chong KK, Lam DS, Pang CP. Chiang SW, et al. Eye (Lond). 2006 May;20(5):602-5. doi: 10.1038/sj.eye.6701944. Eye (Lond). 2006. PMID: 15933747 Review.
AIMS: More than 20 mutations associated with retinitis pigmentosa (RP) have been identified in the retinitis pigmentosa 1 (RP1) gene, all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein. ...
AIMS: More than 20 mutations associated with retinitis pigmentosa (RP) have been identified in the retinitis pigmentosa 1 …