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Year Number of Results
1989 1
1998 1
2006 1
2007 1
2009 1
2010 2
2011 1
2013 1
2014 1
2015 2
2016 2
2017 1
2019 2
2020 1
2021 5
2022 3
2023 1
2024 1

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23 results

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Page 1
Primary Ciliary Dyskinesia.
Shoemark A, Harman K. Shoemark A, et al. Semin Respir Crit Care Med. 2021 Aug;42(4):537-548. doi: 10.1055/s-0041-1730919. Epub 2021 Jul 14. Semin Respir Crit Care Med. 2021. PMID: 34261178
Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs inversus, complex congenital heart disease, and more rarely other syndromic features such as hydrocephalus and retinitis pigmentos …
Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs …
3D engineering for optic neuropathy treatment.
Xuan W, Moothedathu AA, Meng T, Gibson DC, Zheng J, Xu Q. Xuan W, et al. Drug Discov Today. 2021 Jan;26(1):181-188. doi: 10.1016/j.drudis.2020.09.034. Epub 2020 Oct 7. Drug Discov Today. 2021. PMID: 33038525 Free PMC article. Review.
Ocular disorders, such as age-related macular degeneration (AMD), diabetic retinopathy (DR), retinitis pigmentosa (RP), and glaucoma, can cause irreversible visual loss, and affect the quality of life of millions of patients. ...In this review, we discuss current pr …
Ocular disorders, such as age-related macular degeneration (AMD), diabetic retinopathy (DR), retinitis pigmentosa (RP), and gl …
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium. Kuehlewein L, et al. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9. Invest Ophthalmol Vis Sci. 2022. PMID: 35533076 Free PMC article.
PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) can be caused by mutations in the phosphodiesterase 6A (PDE6A) gene. Here, we describe the natural course of disease progression with respect to central retinal function (i.e., visual acuity, contrast sensitiv …
PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) can be caused by mutations in the phosphodiesterase 6A (PDE6A) gene. …
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S. Parameswarappa DC, et al. Int Ophthalmol. 2022 Oct;42(10):3137-3144. doi: 10.1007/s10792-022-02313-6. Epub 2022 May 18. Int Ophthalmol. 2022. PMID: 35585370
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The hospital-based prevalence of PACD among all patients with RP and retinoschisis was 0.19% and 0.15% respectively. ...Glaucoma was managed medic …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
Optical coherence tomography angiography in primary eye care.
Coffey AM, Hutton EK, Combe L, Bhindi P, Gertig D, Constable PA. Coffey AM, et al. Clin Exp Optom. 2021 Jan;104(1):3-13. doi: 10.1111/cxo.13068. Clin Exp Optom. 2021. PMID: 32285493 Free article. Review.
This review included 78 articles from a literature search conducted on 26 May 2019 across the following databases: Cochrane Library of Systematic Reviews, Medline, Scopus and Web of Science. Primary ocular pathologies discussed in this review include glaucoma, diabetic ret …
This review included 78 articles from a literature search conducted on 26 May 2019 across the following databases: Cochrane Library o …
Stem cells in clinical trials for treatment of retinal degeneration.
Klassen H. Klassen H. Expert Opin Biol Ther. 2016;16(1):7-14. doi: 10.1517/14712598.2016.1093110. Epub 2015 Sep 28. Expert Opin Biol Ther. 2016. PMID: 26414165 Review.
These efforts will evaluate the safety and preliminary efficacy of cell-based products in the eyes of patients with a number of retinal conditions, notably including age-related macular degeneration, retinitis pigmentosa and Stargardt's disease. AREAS COVERED: This …
These efforts will evaluate the safety and preliminary efficacy of cell-based products in the eyes of patients with a number of retinal cond …
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alstrom syndrome.
Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F, Callus E, Cagnin S, Reggiani F, Minervini G, Tosatto S, Vettor R, Semenza C, Maffei P. Dassie F, et al. Am J Med Genet A. 2021 Mar;185(3):732-742. doi: 10.1002/ajmg.a.62029. Epub 2021 Jan 7. Am J Med Genet A. 2021. PMID: 33410256

"Mild phenotype" patients performed better on auditory working memory and ideomotor apraxia test than "typical phenotype" ones (91.9 + 16.3% vs. 41.7 + 34.5% of correct answers, Z = 64.5, p < .01 and 92.5 + 9.6 vs. 61.7 + 26.3, Z = 61, p < .05, respectively). Deficit

…
"Mild phenotype" patients performed better on auditory working memory and ideomotor apraxia test than "typical phenotype" ones (91.9 + 16.3% …
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X, Sun W, Li S, Jia X, Zhang Q. Xiao X, et al. Mol Vis. 2019 Dec 2;25:821-833. eCollection 2019. Mol Vis. 2019. PMID: 31908400 Free PMC article.
RESULTS: Seven homozygous or compound heterozygous mutations, including two novel mutations (c.367C>T, p.Q123* and c.1083-2A>G) and five known mutations in SPATA7, were identified in ten families, including six families with Leber congenital amaurosis (LCA), three families …
RESULTS: Seven homozygous or compound heterozygous mutations, including two novel mutations (c.367C>T, p.Q123* and c.1083-2A>G) and fi …
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options.
Partin S, Westfall E, Sanda G, Branham K, Muir K, Bellcross C, Jain N. Partin S, et al. Ophthalmic Genet. 2023 Feb;44(1):43-48. doi: 10.1080/13816810.2022.2135113. Epub 2022 Oct 14. Ophthalmic Genet. 2023. PMID: 36239593
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease. ...
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease …
23 results