Works matching Dryja, Thaddeus P.
Results: 22
Complement Proteins in the Retina in Cancer-Associated Retinopathy.
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- 2019
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- Publication type:
- journal article
Early Insight Into Neovascular Age-Related Macular Degeneration.
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- 2016
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- Publication type:
- journal article
Variation in retinitis pigmentosa-11 ( PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
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- Human Mutation, 2006, v. 27, n. 7, p. 644, doi. 10.1002/humu.20325
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- Article
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
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- Human Mutation, 2005, v. 25, n. 3, p. 248, doi. 10.1002/humu.20142
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- Article
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
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- Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1243
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- Publication type:
- Article
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
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- Human Mutation, 2001, v. 18, n. 6, p. 488, doi. 10.1002/humu.1226
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- Article
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
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- Human Mutation, 1999, v. 13, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1
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- Article
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 583, doi. 10.1093/hmg/12.5.583
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- Article
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
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- Human Molecular Genetics, 2002, v. 11, n. 10, p. 1219, doi. 10.1093/hmg/11.10.1219
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- Article
The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.
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- Genes, 2019, v. 10, n. 11, p. 879, doi. 10.3390/genes10110879
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- Article
Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram.
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- Ophthalmic Genetics, 2007, v. 28, n. 3, p. 135, doi. 10.1080/13816810701503681
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- Article
Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene.
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- Ophthalmic Genetics, 2005, v. 26, n. 3, p. 119, doi. 10.1080/13816810500229090
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- Article
Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases.
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- Ophthalmic Genetics, 2005, v. 26, n. 2, p. 91, doi. 10.1080/13816810590968032
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- Article
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
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- Nature Genetics, 1999, v. 23, n. 4, p. 393, doi. 10.1038/70496
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- Article
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
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- Nature Genetics, 1999, v. 22, n. 3, p. 248, doi. 10.1038/10305
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- Publication type:
- Article
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
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- Nature Genetics, 1999, v. 22, n. 2, p. 188, doi. 10.1038/9707
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- Article
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1230, doi. 10.1038/ng.223
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- Article
Molecular Genetics of Intraocular Tumors.
- Published in:
- 2020
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- Publication type:
- journal article
A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma.
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- 2019
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- Publication type:
- journal article
A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases.
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- 2019
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- Publication type:
- journal article
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
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- Nature, 2004, v. 427, n. 6969, p. 75, doi. 10.1038/nature02170
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- Article
Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open‐Angle Glaucoma.
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- Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 4, p. 874, doi. 10.1002/cpt.1490
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- Article