Works matching DE "GENETICS of retinal degeneration"
Results: 118
Investigation of Key Signaling Pathways Associating miR-204 and Common Retinopathies.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5568113
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- Publication type:
- 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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- Publication type:
- Article
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
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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- 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
Rescue of Photoreceptors by BDNF Gene Transfer Using In Vivo Electroporation in the RCS Rat of Retinitis Pigmentosa.
- Published in:
- Current Eye Research, 2009, v. 34, n. 9, p. 791, doi. 10.1080/02713680903086018
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- Publication type:
- 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
Age-Related Macular Degeneration: Current Management.
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- Ocular Surgery News, 2015, v. 33, n. 2, p. 32
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- Publication type:
- Article
Genetics may account for prevalent AMD subtype in Asians.
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- Ocular Surgery News, 2015, v. 33, n. 1, p. 15
- Publication type:
- 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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- 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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- Publication type:
- Article
Macular degeneration.
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- Australian Journal of Pharmacy, 2014, v. 95, n. 1128, p. 60
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- Publication type:
- Article
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
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- Genes & Immunity, 2010, v. 11, n. 8, p. 609, doi. 10.1038/gene.2010.39
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- Publication type:
- Article
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
Study: Response to anti-VEGF therapy not predictable by AMD-associated genes.
- Published in:
- 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?
- Published in:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Letter
Re: “The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-Related Macular Degeneration: A Huge Review and Meta-analysis”.
- Published in:
- 2013
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- Publication type:
- Letter
Apolipoprotein E Gene Associations in Age-related Macular Degeneration.
- Published in:
- American Journal of Epidemiology, 2012, v. 175, n. 6, p. 511, doi. 10.1093/aje/kwr329
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- Publication type:
- 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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- Publication type:
- Article
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
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- Eye, 2012, v. 26, n. 6, p. 866, doi. 10.1038/eye.2012.27
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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
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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- Publication type:
- 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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- Publication type:
- Article
A Sema3C Mutant Resistant to Cleavage by Furin (FR-Sema3C) Inhibits Choroidal Neovascularization.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168122
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- Publication type:
- 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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- Publication type:
- Article
Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.
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- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158692
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- Publication type:
- Article
Peripheral blood mononuclear cells from neovascular age-related macular degeneration patients produce higher levels of chemokines CCL2 (MCP-1) and CXCL8 (IL-8).
- Published in:
- 2017
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- Publication type:
- journal article
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
- Published in:
- 2016
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- Publication type:
- journal article
ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration.
- Published in:
- 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
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z
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- Publication type:
- Article
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w
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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
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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- Publication type:
- Article
Macular disease genetics and supplementation: the evidence for choosing wisely.
- Published in:
- 2016
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- Publication type:
- Editorial
Twin studies in inherited eye disease.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 2015
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- Publication type:
- Opinion
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0418-0
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- Publication type:
- Article