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15 results

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Page 1
Lysosomes in retinal health and disease.
Boya P, Kaarniranta K, Handa JT, Sinha D. Boya P, et al. Trends Neurosci. 2023 Dec;46(12):1067-1082. doi: 10.1016/j.tins.2023.09.006. Epub 2023 Oct 16. Trends Neurosci. 2023. PMID: 37848361 Free PMC article. Review.
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa.
Megaw R, Hurd TW. Megaw R, et al. Biochem Soc Trans. 2018 Dec 17;46(6):1463-1473. doi: 10.1042/BST20180138. Epub 2018 Nov 21. Biochem Soc Trans. 2018. PMID: 30464047 Review.
Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. ...
Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more t
Flap technique-assisted surgeries for advanced retinitis pigmentosa complicated with macular hole: a case report and literature review.
Lee CY, Yang CM, Yang CH, Hu FR, Chen TC. Lee CY, et al. BMC Ophthalmol. 2021 Sep 6;21(1):322. doi: 10.1186/s12886-021-02082-3. BMC Ophthalmol. 2021. PMID: 34488687 Free PMC article. Review.
BACKGROUND: Full-thickness macular hole (FTMH) is a rare complication in retinitis pigmentosa (RP) patients and may increase intraoperative challenges. Furthermore, lens capsular flap transplantation and inverted internal limiting membrane (ILM) flap were reported t …
BACKGROUND: Full-thickness macular hole (FTMH) is a rare complication in retinitis pigmentosa (RP) patients and may increase i …
[Complicated cataracts in various forms of retinitis pigmentosa. Type and incidence].
Auffarth GU, Tetz MR, Krastel H, Blankenagel A, Völcker HE. Auffarth GU, et al. Ophthalmologe. 1997 Sep;94(9):642-6. doi: 10.1007/s003470050175. Ophthalmologe. 1997. PMID: 9410231 Review. German.
PURPOSE: To study the incidence and types of cataract in retinitis pigmentosa (RP) and their variations among different forms of RP. PATIENTS AND METHODS: This analysis was based on data from 473 patients with RP (autosomal dominant, n = 87; autosomal recessive, n = …
PURPOSE: To study the incidence and types of cataract in retinitis pigmentosa (RP) and their variations among different forms …
Usher protein functions in hair cells and photoreceptors.
Cosgrove D, Zallocchi M. Cosgrove D, et al. Int J Biochem Cell Biol. 2014 Jan;46:80-9. doi: 10.1016/j.biocel.2013.11.001. Epub 2013 Nov 12. Int J Biochem Cell Biol. 2014. PMID: 24239741 Free PMC article. Review.
[Genetics of obesity].
Hainerová IA. Hainerová IA. Vnitr Lek. 2010 Oct;56(10):1035-42. Vnitr Lek. 2010. PMID: 21105448 Review. Czech.
It was estimated that subjects carrying 13 or more risk alleles were on average 1.46 body mass index units heavier (representing 3.7-4.7 kg) than carriers of less than three risk alleles. ...
It was estimated that subjects carrying 13 or more risk alleles were on average 1.46 body mass index units heavier (representing 3.7- …
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B. Kubicka-Trzaska A, et al. Klin Oczna. 2008;110(4-6):203-6. Klin Oczna. 2008. PMID: 18655463 Review.
The authors review most common non-malignant conditions which may be considered masquerades such as: retained intraocular foreign body, rhegmatogenous retinal detachment, myopic degeneration, pigment dispersion syndrome, ocular ischemic syndrome, infectious intraocular inflammati …
The authors review most common non-malignant conditions which may be considered masquerades such as: retained intraocular foreign body, rheg …
A novel large multi-gene deletion in syndromic choroideremia.
Jung EH, Duemler A, Iannaccone A, Alekseev O. Jung EH, et al. Ophthalmic Genet. 2024 Oct;45(5):546-550. doi: 10.1080/13816810.2024.2401850. Epub 2024 Sep 10. Ophthalmic Genet. 2024. PMID: 39257251 Review.
METHODS: Case report and review of literature. RESULTS: We present a case of a 46-year-old male with a prior clinical diagnosis of syndromic retinitis pigmentosa, who was found to have syndromic choroideremia associated with a novel multi-gene deletion of 13. …
METHODS: Case report and review of literature. RESULTS: We present a case of a 46-year-old male with a prior clinical diagnosis of sy …
15 results