Works matching DE "GENETICS of retinal degeneration"
Results: 118
Investigation of Key Signaling Pathways Associating miR-204 and Common Retinopathies.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5568113
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- Article
Distrofia Retiniana Familiar. Reporte de dos casos.
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- Gaceta Médica Boliviana, 2013, v. 36, n. 1, p. 42
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- Publication type:
- Article
Redefining disease.
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- Clinical Medicine, 2010, v. 10, n. 6, p. 584, doi. 10.7861/clinmedicine.10-6-584
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- Publication type:
- Article
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
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- BMC Bioinformatics, 2015, v. 16, p. 1, doi. 10.1186/s12859-015-0760-4
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- Publication type:
- Article
DNA Damage/Repair and Polymorphism of the hOGG1 Gene in Lymphocytes of AMD Patients.
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- Journal of Biomedicine & Biotechnology, 2009, p. 1, doi. 10.1155/2009/827562
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- Article
A Case of Best Vitelliform Macular Dystrophy Caused by BEST1 Autosomal Recessive Intronic Mutations.
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- 2016
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- Publication type:
- Abstract
Mutations in human IFT140 cause non-syndromic retinal degeneration.
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- Human Genetics, 2015, v. 134, n. 10, p. 1069, doi. 10.1007/s00439-015-1586-x
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- Article
Mutation of ATF6 causes autosomal recessive achromatopsia.
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- Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4
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- Article
Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration.
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- Ophthalmologica, 2017, v. 238, n. 1/2, p. 6, doi. 10.1159/000468949
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- Article
Nutrition, Genes, and Age-Related Macular Degeneration: What Have We Learned from the Trials?
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- Ophthalmologica, 2017, v. 238, n. 1/2, p. 1, doi. 10.1159/000473865
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- Article
Genetic Risk Evaluation in Wet Age-Related Macular Degeneration Treatment Response.
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- Ophthalmologica, 2016, v. 236, n. 2, p. 88, doi. 10.1159/000446819
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- Article
Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition.
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- Ophthalmologica, 2014, v. 231, n. 2, p. 59, doi. 10.1159/000355488
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- Publication type:
- Article
Clinical and genetic characteristics of pachydrusen in patients with exudative age-related macular degeneration.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48494-6
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- Publication type:
- Article
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
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- Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/1691064
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- Publication type:
- Article
Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”.
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- Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/3039672
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- Publication type:
- Article
ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 2, p. 323, doi. 10.1007/s00417-015-3211-z
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- Publication type:
- Article
Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores.
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- Genetics, 2017, v. 206, n. 1, p. 119, doi. 10.1534/genetics.116.196998
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- Article
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.
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- Genetics, 2017, v. 205, n. 2, p. 919, doi. 10.1534/genetics.116.195966
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- Article
Electrophysiological and Histologic Evaluation of the Time Course of Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa.
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- Korean Journal of Physiology & Pharmacology, 2013, v. 17, n. 3, p. 229, doi. 10.4196/kjpp.2013.17.3.229
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- Article
Human limbal neurospheres prevent photoreceptor cell death in a rat model of retinal degeneration.
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- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 6, p. 613, doi. 10.1111/ceo.12940
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- Article
Macular disease genetics and supplementation: the evidence for choosing wisely.
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- 2016
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- Publication type:
- Editorial
Twin studies in inherited eye disease.
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- Clinical & Experimental Ophthalmology, 2014, v. 42, n. 1, p. 84, doi. 10.1111/ceo.12233
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- Publication type:
- Article
Age-related macular degeneration and genetics.
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- 2010
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- Publication type:
- Editorial
Pathogenic microRNAs Common to Brain and Retinal Degeneration; Recent Observations in Alzheimer's Disease and Age-Related Macular Degeneration.
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- 2015
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- Publication type:
- Opinion
Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy.
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- Genes, 2018, v. 9, n. 12, p. 643, doi. 10.3390/genes9120643
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- Publication type:
- Article
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
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- Genes, 2018, v. 9, n. 7, p. 360, doi. 10.3390/genes9070360
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- Publication type:
- Article
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
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- Genes, 2017, v. 8, n. 10, p. 280, doi. 10.3390/genes8100280
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- Publication type:
- Article
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0418-0
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- Publication type:
- Article
Restoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degeneration.
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- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0183-x
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- Publication type:
- Article
Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.
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- Journal of Ophthalmology, 2024, v. 2024, p. 1, doi. 10.1155/2024/4003914
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- Publication type:
- Article
Current views on genetic testing for AMD.
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- Optometry Times, 2014, v. 6, n. 11, p. 14
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- Article
Age-Related Macular Degeneration: Current Management.
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- Ocular Surgery News, 2015, v. 33, n. 2, p. 32
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- Article
Genetics may account for prevalent AMD subtype in Asians.
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- Ocular Surgery News, 2015, v. 33, n. 1, p. 15
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- Article
IN THE JOURNALS.
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- Ocular Surgery News, 2014, v. 32, n. 16, p. 27
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- Article
Speaker reinforces AAO stance on guidelines for genetic testing.
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- Ocular Surgery News, 2014, v. 32, n. 13, p. 20
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- Article
Study: Response to anti-VEGF therapy not predictable by AMD-associated genes.
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- Ocular Surgery News, 2013, v. 31, n. 9, p. 16
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- Publication type:
- Article
Genetic factors in age-related macular degeneration.
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- Ocular Surgery News, 2013, v. 31, n. 6, p. 42
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- Publication type:
- Article
If a genetic test (described below) were readily available in your office, would you administer the test?
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- Ocular Surgery News, 2012, v. 30, n. 24, p. 4
- Publication type:
- Article
In the Journals.
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- Ocular Surgery News, 2012, v. 30, n. 22, p. 10
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- Article
AMD needs multiple, individualized strategies for treatment.
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- Ocular Surgery News, 2012, v. 30, n. 11, p. 16
- Publication type:
- Article
Effect of nutrition, lifestyle factors on AMD merits further study.
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- Ocular Surgery News, 2012, p. 1
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- Article
Study shows novel biologic pathway in AMD cascade.
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- Ocular Surgery News, 2010, v. 28, n. 16, p. 15
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- Article
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.
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- Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00044
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- Publication type:
- Article
ER stress protects from retinal degeneration.
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- EMBO Journal, 2009, v. 28, n. 9, p. 1296, doi. 10.1038/emboj.2009.76
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- Publication type:
- Article
Optimizing Screening for Preventable Blindness With Head-Mounted Visual Assessment Technology.
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- Journal of Visual Impairment & Blindness, 2022, v. 116, n. 4, p. 579, doi. 10.1177/0145482X221124186
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- Publication type:
- Article
Retinal Disorders and Sleep Disorders: Are They Genetically Related?
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- Journal of Visual Impairment & Blindness, 2015, v. 109, n. 5, p. 359, doi. 10.1177/0145482X1510900505
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- Publication type:
- Article
GENE THERAPY CLINICAL TRIAL UNDERWAY FOR STARGARDT'S DISEASE.
- Published in:
- Journal of Visual Impairment & Blindness, 2011, v. 105, n. 7, p. 443
- Publication type:
- Article
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
- Published in:
- Genes & Immunity, 2010, v. 11, n. 8, p. 609, doi. 10.1038/gene.2010.39
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- Publication type:
- Article
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/940864
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- Publication type:
- Article
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
- Published in:
- Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/5706142
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- Publication type:
- Article