Found: 19
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Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.
- Published in:
- Ophthalmologica, 2024, v. 247, n. 4, p. 231, doi. 10.1159/000540361
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- Publication type:
- Article
An update on the genetics of ocular coloboma.
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- Human Genetics, 2019, v. 138, n. 8/9, p. 865, doi. 10.1007/s00439-019-02019-3
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- Article
Prospects and modalities for the treatment of genetic ocular anomalies.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 1019, doi. 10.1007/s00439-018-01968-5
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- Article
RNA-based therapies in animal models of Leber congenital amaurosis causing blindness.
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- Precision Clinical Medicine, 2020, v. 3, n. 2, p. 113, doi. 10.1093/pcmedi/pbaa009
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- Publication type:
- Article
Photoreceptor precursor cell integration into rodent retina after treatment with novel glycopeptide PKX‐001.
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- Journal of Tissue Engineering & Regenerative Medicine, 2021, v. 15, n. 6, p. 556, doi. 10.1002/term.3193
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- Article
NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1501, doi. 10.1093/hmg/ddw029
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- Publication type:
- Article
Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.
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- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2357, doi. 10.1093/hmg/dds056
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- Publication type:
- Article
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3987, doi. 10.1093/hmg/ddn302
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- Publication type:
- Article
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
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- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3482
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- Publication type:
- Article
Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025489
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- Article
Pharmacological Enhancement of ex vivo Gene Therapy Neuroprotection in a Rodent Model of Retinal Degeneration.
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- Ophthalmic Research, 2011, v. 47, n. 1, p. 32, doi. 10.1159/000325730
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- Publication type:
- Article
Targeting Inflammation in Emerging Therapies for Genetic Retinal Disease.
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- 2013
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- Publication type:
- Journal Article
Targeting Inflammation in Emerging Therapies for Genetic Retinal Disease.
- Published in:
- International Journal of Inflammation, 2013, p. 1, doi. 10.1155/2013/581751
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- Publication type:
- Article
Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene.
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- BMC Genetics, 2001, v. 2, p. 1
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- Publication type:
- Article
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.
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- Journal of Clinical Investigation, 2014, v. 124, n. 1, p. 111, doi. 10.1172/JCI70462
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- Publication type:
- Article
Cell Death Pathways in Mutant Rhodopsin Rat Models Identifies Genotype-Specific Targets Controlling Retinal Degeneration.
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- Molecular Neurobiology, 2019, v. 56, n. 3, p. 1637, doi. 10.1007/s12035-018-1192-8
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- Publication type:
- Article
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 778, doi. 10.1093/hmg/ddy381
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- Publication type:
- Article
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
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- Molecular Vision, 2023, v. 29, p. 329
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- Publication type:
- Article
An ex vivo gene therapy approach in X-linked retinoschisis.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article