Found: 34
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
- Published in:
- 2011
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- Publication type:
- journal article
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
- Published in:
- 2010
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- Publication type:
- journal article
Retinal Disorders and Sleep Disorders: Are They Genetically Related?
- Published in:
- Journal of Visual Impairment & Blindness, 2015, v. 109, n. 5, p. 359, doi. 10.1177/0145482X1510900505
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- Publication type:
- Article
Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2233, doi. 10.1002/ajmg.a.61299
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- Publication type:
- Article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
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- Publication type:
- Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
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- Publication type:
- Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
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- Publication type:
- Article
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 889, doi. 10.1038/ng2066
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- Publication type:
- Article
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
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- Publication type:
- Article
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
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- Publication type:
- Article
A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3
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- Publication type:
- Article
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 80, doi. 10.1038/ejhg.2008.143
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- Publication type:
- Article
Revisiting Congenital Stationary Night Blindness in the Molecular Era.
- Published in:
- 2018
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- Publication type:
- journal article
Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 2, p. 178, doi. 10.1001/2013.jamaophthalmol.354
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- Publication type:
- Article
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
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- Molecular Vision, 2021, v. 27, p. 95
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- Publication type:
- Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
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- Publication type:
- Article
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032
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- Publication type:
- Article
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
- Published in:
- PLoS Pathogens, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.ppat.1005772
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- Publication type:
- Article
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 14, doi. 10.1002/mgg3.109
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- Publication type:
- Article
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
- Published in:
- Clinical & Experimental Ophthalmology, 2007, v. 35, n. 5, p. 473, doi. 10.1111/j.1442-9071.2007.01534.x
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- Publication type:
- Article
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1479, doi. 10.1093/hmg/ddw022
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- Publication type:
- Article
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
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- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1432, doi. 10.1093/hmg/dds560
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- Publication type:
- Article
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4126, doi. 10.1093/hmg/dds242
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- Publication type:
- Article
The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration.
- Published in:
- Frontiers in Aging Neuroscience, 2020, v. 12, p. N.PAG, doi. 10.3389/fnagi.2020.586691
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- Publication type:
- Article
Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery.
- Published in:
- Acta Ophthalmologica (1755375X), 2023, v. 101, n. 2, p. 242, doi. 10.1111/aos.15297
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- Publication type:
- Article
Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. 3, doi. 10.1111/aos.15292
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- Publication type:
- Article
QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results.
- Published in:
- 2022
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- Publication type:
- Abstract
Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
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- Publication type:
- Article
CRB1 mutation spectrum in inherited retinal dystrophies.
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- Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
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- Publication type:
- Article
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543
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- Publication type:
- Article
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
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- Genes, 2020, v. 11, n. 12, p. 1420, doi. 10.3390/genes11121420
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- Publication type:
- Article
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0109-2
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- Publication type:
- Article
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0109-2
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- Publication type:
- Article