Works matching DE "RETINITIS pigmentosa"
Results: 2308
ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 1, p. 42, doi. 10.1038/nsmb.1535
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- Article
Eye on RNA unwinding.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 1, p. 7, doi. 10.1038/nsmb0109-7
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- Article
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 11, p. 1077, doi. 10.1038/nsmb1303
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- Article
Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.
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- PLoS Biology, 2025, v. 23, n. 1, p. 1, doi. 10.1371/journal.pbio.3002932
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- Article
A new and effective method for human retina optic disc segmentation with fuzzy clustering method based on active contour model.
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- 2020
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- Publication type:
- journal article
Infantile Refsum Disease With Enamel Defects: A Case Report.
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- 2011
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- Publication type:
- Case Study
High‐Frequency Stimulation of Normal and Blind Mouse Retinas Using TiO<sub>2</sub> Nanotubes.
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- Advanced Functional Materials, 2018, v. 28, n. 50, p. N.PAG, doi. 10.1002/adfm.201804639
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- Article
Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.
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- Documenta Ophthalmologica, 2024, v. 149, n. 2, p. 133, doi. 10.1007/s10633-024-09985-8
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- Article
Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.
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- 2023
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- Case Study
Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.
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- 2023
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- Case Study
No strong evidence to date for an association between RIMS1 and retinal dystrophy.
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- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 93, doi. 10.1007/s10633-022-09905-8
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- Article
Residual rod function in CNGB1 mutant dogs.
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- Documenta Ophthalmologica, 2022, v. 145, n. 3, p. 237, doi. 10.1007/s10633-022-09899-3
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- Article
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.
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- Documenta Ophthalmologica, 2022, v. 144, n. 3, p. 227, doi. 10.1007/s10633-022-09874-y
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- Article
Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.
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- Documenta Ophthalmologica, 2021, v. 143, n. 3, p. 305, doi. 10.1007/s10633-021-09847-7
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- Article
New criteria for evaluation of electroretinogram in patients with retinitis pigmentosa.
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- Documenta Ophthalmologica, 2021, v. 143, n. 3, p. 271, doi. 10.1007/s10633-021-09843-x
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- Article
ERG assessment of altered retinal function in canine models of retinitis pigmentosa and monitoring of response to translatable gene augmentation therapy.
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- Documenta Ophthalmologica, 2021, v. 143, n. 2, p. 171, doi. 10.1007/s10633-021-09832-0
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- Publication type:
- Article
CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.
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- Documenta Ophthalmologica, 2021, v. 142, n. 3, p. 381, doi. 10.1007/s10633-020-09810-y
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- Article
Unilaterally extinguished electroretinograms in an eye with normal visual acuity and visual field.
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- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 127, doi. 10.1007/s10633-020-09779-8
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- Article
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
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- Documenta Ophthalmologica, 2020, v. 140, n. 1, p. 67, doi. 10.1007/s10633-019-09719-1
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- Article
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
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- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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- Article
A case of X-linked retinoschisis with atypical fundus appearance.
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- Documenta Ophthalmologica, 2019, v. 139, n. 1, p. 75, doi. 10.1007/s10633-019-09698-3
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- Article
A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.
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- Documenta Ophthalmologica, 2018, v. 137, n. 2, p. 103, doi. 10.1007/s10633-018-9654-x
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- Article
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
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- Documenta Ophthalmologica, 2018, v. 137, n. 1, p. 47, doi. 10.1007/s10633-018-9649-7
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- Article
Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.
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- 2018
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- Publication type:
- Case Study
Measurement of dark adaptometry during ISCEV standard flash electroretinography.
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- Documenta Ophthalmologica, 2017, v. 135, n. 3, p. 195, doi. 10.1007/s10633-017-9614-x
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- Article
ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa.
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- Documenta Ophthalmologica, 2017, v. 134, n. 3, p. 175, doi. 10.1007/s10633-017-9588-8
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- Publication type:
- Article
Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up.
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- Documenta Ophthalmologica, 2016, v. 132, n. 3, p. 213, doi. 10.1007/s10633-016-9537-y
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- Article
Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up.
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- 2016
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- Publication type:
- Erratum
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
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- Documenta Ophthalmologica, 2015, v. 131, n. 1, p. 71, doi. 10.1007/s10633-015-9497-7
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- Article
Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications.
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- Documenta Ophthalmologica, 2014, v. 129, n. 1, p. 9, doi. 10.1007/s10633-014-9446-x
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- Article
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
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- Documenta Ophthalmologica, 2014, v. 129, n. 1, p. 49, doi. 10.1007/s10633-014-9443-0
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- Publication type:
- Article
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
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- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 211, doi. 10.1007/s10633-014-9435-0
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- Article
Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes.
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- Documenta Ophthalmologica, 2013, v. 127, n. 2, p. 123, doi. 10.1007/s10633-013-9393-y
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- Article
Decreased retinal-choroidal blood flow in retinitis pigmentosa as measured by MRI.
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- Documenta Ophthalmologica, 2013, v. 126, n. 3, p. 187, doi. 10.1007/s10633-013-9374-1
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- Article
Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone-rod dystrophy.
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- Documenta Ophthalmologica, 2012, v. 125, n. 3, p. 211, doi. 10.1007/s10633-012-9348-8
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- Article
Association between multifocal electroretinograms, optical coherence tomography and central visual sensitivity in advanced retinitis pigmentosa.
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- Documenta Ophthalmologica, 2012, v. 125, n. 2, p. 113, doi. 10.1007/s10633-012-9342-1
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- Article
Assessment of 'non-recordable' electroretinograms by 9 Hz flicker stimulation under scotopic conditions.
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- Documenta Ophthalmologica, 2012, v. 124, n. 1, p. 27, doi. 10.1007/s10633-011-9302-1
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- Article
Oguchi disease masked by retinitis pigmentosa.
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- Documenta Ophthalmologica, 2011, v. 123, n. 2, p. 127, doi. 10.1007/s10633-011-9286-x
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- Article
Isolated mesopic rod and cone electroretinograms realized with a four-primary method.
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- Documenta Ophthalmologica, 2011, v. 123, n. 1, p. 29, doi. 10.1007/s10633-011-9279-9
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- Article
Posterior microphthalmos pigmentary retinopathy syndrome.
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- Documenta Ophthalmologica, 2011, v. 122, n. 2, p. 127, doi. 10.1007/s10633-011-9266-1
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- Article
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2025, v. 263, n. 2, p. 379, doi. 10.1007/s00417-024-06659-8
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- Publication type:
- Article
Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 11, p. 3553, doi. 10.1007/s00417-024-06534-6
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- Article
Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 10, p. 3375, doi. 10.1007/s00417-024-06545-3
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- Article
Prognostic impact of hyperreflective foci in nonsyndromic retinitis pigmentosa.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 9, p. 2851, doi. 10.1007/s00417-024-06474-1
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- Article
Genetic profile of syndromic retinitis pigmentosa in Portugal.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 6, p. 1883, doi. 10.1007/s00417-023-06360-2
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- Article
Outcomes of vitreoretinal surgery in eyes with retinitis pigmentosa without retinal detachment.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 2, p. 441, doi. 10.1007/s00417-023-06274-z
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- Article
Serum antiretinal antibodies and cytokine profiling in autoimmune retinopathy and their association with clinical outcomes.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 9, p. 2651, doi. 10.1007/s00417-023-06081-6
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- Article
Oral minocycline for the treatment of retinitis pigmentosa–associated cystoid macular edema: results of a phase I/II clinical trial.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 8, p. 2209, doi. 10.1007/s00417-023-05986-6
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- Article
Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 7, p. 2003, doi. 10.1007/s00417-022-05955-5
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- Article
Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 3, p. 867, doi. 10.1007/s00417-022-05809-0
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- Publication type:
- Article