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High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Drinking hydrogen water improves photoreceptor structure and function in retinal degeneration 6 mice.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17903-8
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- Publication type:
- Article
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1331, doi. 10.3390/ijms21041331
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- Publication type:
- Article
Genotype-Phenotype Correlations in RP1 -Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2265, doi. 10.3390/jcm10112265
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- Publication type:
- Article
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1688
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- Publication type:
- Article
RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 675, doi. 10.1002/ajmg.c.31830
- By:
- Publication type:
- Article
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.
- Published in:
- Journal of Ophthalmology, 2014, p. 1, doi. 10.1155/2014/283603
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- Publication type:
- Article
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 1, p. 59, doi. 10.1007/s10633-023-09936-9
- By:
- Publication type:
- Article
A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 107, doi. 10.1007/s10633-021-09826-y
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- Publication type:
- Article
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
- Published in:
- Documenta Ophthalmologica, 2016, v. 132, n. 3, p. 233, doi. 10.1007/s10633-016-9540-3
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- Publication type:
- Article
Multimodal imaging of a case of peripheral cone dystrophy.
- Published in:
- Documenta Ophthalmologica, 2015, v. 130, n. 3, p. 241, doi. 10.1007/s10633-015-9490-1
- By:
- Publication type:
- Article
α-Syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.
- Published in:
- Journal of Cell Biology, 2002, v. 158, n. 6, p. 1097, doi. 10.1083/jcb.200204076
- By:
- Publication type:
- Article
High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
- By:
- Publication type:
- Article
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62119-3
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- Publication type:
- Article
Tyrosine triple mutated AAV2-BDNF gene therapy in an inner retinal injury model induced by intravitreal injection of N-methyl-D-aspartate (NMDA).
- Published in:
- Molecular Vision, 2020, v. 26, p. 409
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- Publication type:
- Article
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
- Published in:
- Molecular Vision, 2019, v. 25, p. 559
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- Publication type:
- Article
Tyrosine triple mutated AAV2-BDNF gene therapy in a rat model of transient IOP elevation.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-018-0034-6
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- Publication type:
- Article
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72623-1
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- Publication type:
- Article
Optical Coherence Tomography Angiography of Nonarteritic Cilioretinal Artery Occlusion Alone.
- Published in:
- Case Reports in Ophthalmological Medicine, 2021, p. 1, doi. 10.1155/2021/8845972
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- Publication type:
- Article
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1442107
- By:
- Publication type:
- Article
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2179, doi. 10.1093/hmg/ddg232
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- Publication type:
- Article
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1879, doi. 10.1093/hmg/11.16.1879
- By:
- Publication type:
- Article
Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
- Published in:
- Japanese Journal of Ophthalmology, 2017, v. 61, n. 5, p. 395, doi. 10.1007/s10384-017-0522-0
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- Publication type:
- Article
Cone Dystrophy in Patient with Homozygous RP1L1 Mutation.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/545243
- By:
- Publication type:
- Article
High-resolution en face images of microcystic macular edema in patients with autosomal dominant optic atrophy.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/676803
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- Publication type:
- Article
Dp260 Disrupted Mice Revealed Prolonged Implicit Time of the b-Wave in ERG and Loss of Accumulation of β-Dystroglycan in the Outer Plexiform Layer of the Retina.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 13, p. 2195, doi. 10.1093/hmg/6.13.2195
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- Publication type:
- Article
Amount of Green Fluorescent Protein in the Anterior Chamber after Intravitreal Injection of Triple-Mutated Self-Complementary AAV2 Vectors is Not Affected by Previous Vitrectomy Surgery.
- Published in:
- Journal of Nippon Medical School, 2021, v. 88, n. 2, p. 103, doi. 10.1272/jnms.JNMS.2021_88-203
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- Publication type:
- Article
Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.
- Published in:
- Journal of Nippon Medical School, 2020, v. 87, n. 2, p. 92, doi. 10.1272/jnms.JNMS.2020_87-207
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- Publication type:
- Article