Works matching DE "GENETICS of retinal degeneration"
Results: 118
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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- Article
Complement factor H R1210C among Japanese patients with age-related macular degeneration.
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- Japanese Journal of Ophthalmology, 2015, v. 59, n. 5, p. 273, doi. 10.1007/s10384-015-0394-0
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- Article
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/940864
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- 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
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
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- PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005574
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- 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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- 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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- Article
GENE THERAPY CLINICAL TRIAL UNDERWAY FOR STARGARDT'S DISEASE.
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- Journal of Visual Impairment & Blindness, 2011, v. 105, n. 7, p. 443
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- Article
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z
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- Article
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
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- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w
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- Article
Lipid Nanoparticles for Ocular Gene Delivery.
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- Journal of Functional Biomaterials, 2015, v. 6, n. 2, p. 379, doi. 10.3390/jfb6020379
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- Article
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
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- Molecular Medicine Reports, 2016, v. 13, n. 3, p. 2308, doi. 10.3892/mmr.2016.4784
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- Article
Recent advances and future prospects in choroideremia.
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- Clinical Ophthalmology, 2015, v. 9, p. 2195, doi. 10.2147/OPTH.S65732
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- Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
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- Article
Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration.
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- Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 3, p. 207, doi. 10.1016/j.ejmhg.2017.09.003
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- Article
Macular degeneration.
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- Australian Journal of Pharmacy, 2014, v. 95, n. 1128, p. 60
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- Article
Re: “The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-related Macular Degeneration: A Huge Review and Meta-analysis”.
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- 2013
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- Letter
Re: “The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-Related Macular Degeneration: A Huge Review and Meta-analysis”.
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- 2013
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- Letter
Apolipoprotein E Gene Associations in Age-related Macular Degeneration.
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- American Journal of Epidemiology, 2012, v. 175, n. 6, p. 511, doi. 10.1093/aje/kwr329
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- Article
Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People.
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- American Journal of Epidemiology, 2011, v. 173, n. 12, p. 1357, doi. 10.1093/aje/kwr015
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- 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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- Article
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
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- Nature Genetics, 2011, v. 43, n. 10, p. 1001, doi. 10.1038/ng.938
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- Publication type:
- Article
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
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- BMC Genetics, 2014, v. 15, n. 1, p. 336, doi. 10.1186/s12863-014-0143-2
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- Article
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
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- Scientific Reports, 2015, p. 13902, doi. 10.1038/srep13902
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- Article
Oxidative Stress Induces Biphasic ERK1/2 Activation in the RPE with Distinct Effects on Cell Survival at Early and Late Activation.
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- Current Eye Research, 2015, v. 40, n. 8, p. 853, doi. 10.3109/02713683.2014.961613
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- Article
Rescue of Photoreceptors by BDNF Gene Transfer Using In Vivo Electroporation in the RCS Rat of Retinitis Pigmentosa.
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- Current Eye Research, 2009, v. 34, n. 9, p. 791, doi. 10.1080/02713680903086018
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- Article
AMD Genetics in India: The Missing Links.
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- Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00115
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- Article
Alternative splicing and retinal degeneration.
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- Clinical Genetics, 2013, v. 84, n. 2, p. 142, doi. 10.1111/cge.12181
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- Article
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23
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- Article
A Sema3C Mutant Resistant to Cleavage by Furin (FR-Sema3C) Inhibits Choroidal Neovascularization.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168122
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- Article
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168966
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- 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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- 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
Nutritional Genomics: Implications for Age-Related Macular Degeneration.
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- Nutrients, 2024, v. 16, n. 23, p. 4124, doi. 10.3390/nu16234124
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- 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
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. 10.1155/2018/5706142
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- Publication type:
- Article
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
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- Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/1030184
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- Article
The role of autophagy in age-related macular degeneration.
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- Acta Ophthalmologica (1755375X), 2018, v. 96, p. 7, doi. 10.1111/aos.13753
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- Article
Dissecting microRNA dysregulation in age‐related macular degeneration: new targets for eye gene therapy.
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- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 1, p. 9, doi. 10.1111/aos.13407
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- Article
This issue of ACTA.
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- 2016
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- Editorial
Fighting blinding fundus diseases: China on the way!
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- 2016
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- Publication type:
- Editorial
Mitochondrial DNA haplogroups associated with neovascular age-related degeneration in a Spain population.
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- 2015
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- Abstract
Stimulation of TLR4 Increases Angiogenic and Anti-Angiogenic Gene Expression in Choroidal Endothelial Cells.
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- 2015
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- Abstract
Genetic association study of age-related macular degeneration in the Spanish population.
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- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 1, p. e12, doi. 10.1111/j.1755-3768.2010.02040.x
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- Publication type:
- Article
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.
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- Journal of Biochemistry, 2015, v. 158, n. 2, p. 115, doi. 10.1093/jb/mvv028
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- Article
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0364-5
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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