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Establishment of the Indian Chapter for Asian Eye Genetics Consortium.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.
- Published in:
- Ophthalmic Genetics, 2022, v. 43, n. 5, p. 622, doi. 10.1080/13816810.2022.2090010
- By:
- Publication type:
- Article
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
- Published in:
- Ophthalmic Genetics, 2022, v. 43, n. 3, p. 400, doi. 10.1080/13816810.2021.2023195
- By:
- Publication type:
- Article
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
- Published in:
- Ophthalmic Genetics, 2019, v. 40, n. 5, p. 480, doi. 10.1080/13816810.2019.1686159
- By:
- Publication type:
- Article
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel <italic>PRPH2</italic> variant (p.Cys250Gly).
- Published in:
- Ophthalmic Genetics, 2018, v. 39, n. 3, p. 357, doi. 10.1080/13816810.2018.1459737
- By:
- Publication type:
- Article
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
- Published in:
- Ophthalmic Genetics, 2016, v. 37, n. 2, p. 161, doi. 10.3109/13816810.2014.991931
- By:
- Publication type:
- Article
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
- Published in:
- Ophthalmic Genetics, 2016, v. 37, n. 1, p. 68, doi. 10.3109/13816810.2014.949380
- By:
- Publication type:
- Article
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
- Published in:
- Ophthalmic Genetics, 2015, v. 36, n. 2, p. 137, doi. 10.3109/13816810.2014.991932
- By:
- Publication type:
- Article
Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration.
- Published in:
- Taiwan Journal of Ophthalmology, 2024, v. 14, n. 4, p. 531, doi. 10.4103/tjo.TJO-D-23-00152
- By:
- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
- By:
- Publication type:
- Article
Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06384-2
- By:
- Publication type:
- Article
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35152-6
- By:
- Publication type:
- Article
Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.605918
- By:
- Publication type:
- Article
Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis).
- Published in:
- FASEB Journal, 2005, v. 19, n. 12, p. 1683, doi. 10.1096/fj.04-3525fje
- 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
- By:
- Publication type:
- Article
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
- Published in:
- Japanese Journal of Ophthalmology, 2017, v. 61, n. 1, p. 92, doi. 10.1007/s10384-016-0484-7
- By:
- Publication type:
- Article
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
- Published in:
- Japanese Journal of Ophthalmology, 2016, v. 60, n. 6, p. 476, doi. 10.1007/s10384-016-0470-0
- By:
- Publication type:
- Article
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
- Published in:
- Japanese Journal of Ophthalmology, 2016, v. 60, n. 3, p. 187, doi. 10.1007/s10384-016-0424-6
- By:
- Publication type:
- Article
Retinal pigment epithelium-specific ablation of GPx4 in adult mice recapitulates key features of geographic atrophy in age-related macular degeneration.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 10, p. 1, doi. 10.1038/s41419-024-07150-2
- By:
- Publication type:
- Article
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- Journal of Ophthalmology, 2014, p. 1, doi. 10.1155/2014/210947
- By:
- Publication type:
- Article
Three cases of acute-onset bilateral photophobia.
- Published in:
- Japanese Journal of Ophthalmology, 2019, v. 63, n. 2, p. 172, doi. 10.1007/s10384-018-00649-0
- 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
A controlled ovarian stimulation procedure suitable for cynomolgus macaques.
- Published in:
- Experimental Animals, 2022, v. 71, n. 4, p. 426, doi. 10.1538/expanim.21-0198
- By:
- Publication type:
- Article
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0
- By:
- 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
- By:
- Publication type:
- Article
Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24915-x
- By:
- Publication type:
- Article
Fundamental Study of Spacer‐Insulation‐Performance Improvement by Nonlinear‐Resistance Material.
- Published in:
- IEEJ Transactions on Electrical & Electronic Engineering, 2024, v. 19, n. 3, p. 342, doi. 10.1002/tee.23969
- By:
- Publication type:
- Article
Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108721
- By:
- Publication type:
- Article
Modeling Retinal Degeneration Using Patient-Specific Induced Pluripotent Stem Cells.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017084
- By:
- Publication type:
- Article
VAV2 and VAV3 as Candidate Disease Genes for Spontaneous Glaucoma in Mice and Humans.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009050
- By:
- Publication type:
- Article
Molecular genetics of inherited normal tension glaucoma.
- Published in:
- Indian Journal of Ophthalmology, 2024, v. 72, p. S335, doi. 10.4103/IJO.IJO_3204_23
- By:
- Publication type:
- Article
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
- Published in:
- Documenta Ophthalmologica, 2015, v. 130, n. 1, p. 49, doi. 10.1007/s10633-014-9464-8
- By:
- Publication type:
- Article
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z
- By:
- Publication type:
- Article
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 211, doi. 10.1007/s10633-014-9435-0
- By:
- Publication type:
- Article
Protein Data Bank Japan: Celebrating our 20th anniversary during a global pandemic as the Asian hub of three dimensional macromolecular structural data.
- Published in:
- Protein Science: A Publication of the Protein Society, 2022, v. 31, n. 1, p. 173, doi. 10.1002/pro.4211
- By:
- Publication type:
- Article
New tools and functions in data-out activities at Protein Data Bank Japan (PDBj).
- Published in:
- Protein Science: A Publication of the Protein Society, 2018, v. 27, n. 1, p. 95, doi. 10.1002/pro.3273
- By:
- Publication type:
- Article
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1308
- By:
- Publication type:
- Article
Corrigendum: Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration.
- Published in:
- Scientific Reports, 2017, p. 40460, doi. 10.1038/srep40460
- By:
- Publication type:
- Article
Intraoperative electrophysiological evaluations of macular function during peripheral scleral indentation.
- Published in:
- Scientific Reports, 2016, p. 35164, doi. 10.1038/srep35164
- By:
- Publication type:
- Article
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
- Published in:
- Scientific Reports, 2016, p. 33742, doi. 10.1038/srep33742
- By:
- Publication type:
- Article
Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration.
- Published in:
- Scientific Reports, 2016, p. 33830, doi. 10.1038/srep33830
- By:
- Publication type:
- Article
Electroretinographic evaluations of retinal function before, just after, and after intravitreal injections.
- Published in:
- Scientific Reports, 2016, p. 31104, doi. 10.1038/srep31104
- By:
- Publication type:
- Article
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 444, doi. 10.1093/hmg/ddz311
- By:
- Publication type:
- Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
- By:
- Publication type:
- Article
HTRA1 Overexpression Induces the Exudative Form of Age-related Macular Degeneration.
- Published in:
- Journal of Stem Cells, 2015, v. 10, n. 3, p. 193
- By:
- 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