Found: 17
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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Article
Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 963, doi. 10.3390/ijms25020963
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- Article
Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16007, doi. 10.3390/ijms232416007
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- Article
Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion: Cambridge-Color-Test und photorezeptorspezifische zeitliche Kontrastempfindlichkeit bei Patient/Innen mit heterozygoten RP1L1- und RPGR-Mutationen.
- Published in:
- Der Ophthalmologe, 2021, v. 118, n. 2, p. 144, doi. 10.1007/s00347-020-01119-0
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- Article
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9353, doi. 10.3390/ijms21249353
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- Article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
- Published in:
- Ophthalmic Research, 2020, v. 63, n. 2, p. 141, doi. 10.1159/000504757
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- Publication type:
- Article
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1749, doi. 10.1002/humu.23787
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- Article
Sorsby fundus dystrophy: Insights from the past and looking to the future.
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- Journal of Neuroscience Research, 2019, v. 97, n. 1, p. 88, doi. 10.1002/jnr.24317
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- Publication type:
- Article
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
- Published in:
- Genes, 2017, v. 8, n. 7, p. 170, doi. 10.3390/genes8070170
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- Article
Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice.
- Published in:
- 2016
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- Publication type:
- journal article
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 21, p. 4573, doi. 10.1093/hmg/dds268
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- Publication type:
- Article
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 6, p. 1132, doi. 10.1093/hmg/ddq557
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- Publication type:
- Article
Evolution and functional divergence of the anoctamin family of membrane proteins.
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- BMC Evolutionary Biology, 2010, v. 10, p. 319, doi. 10.1186/1471-2148-10-319
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- Publication type:
- Article
TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 21, p. 6809, doi. 10.1523/JNEUROSCI.5546-08.2009
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- Publication type:
- Article
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1517, doi. 10.1093/hmg/7.9.1517
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- Publication type:
- Article
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 400, doi. 10.1038/sj.ejhg.5200196
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- Publication type:
- Article