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X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1518, doi. 10.3390/ijms20061518
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- Article
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433
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- Publication type:
- Article
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 514, doi. 10.1002/ajmg.a.34400
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- Article
Successful scleral buckling of late-onset visual decrease in eye with retinal folds.
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- Documenta Ophthalmologica, 2016, v. 133, n. 2, p. 145, doi. 10.1007/s10633-016-9559-5
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- Article
Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.
- Published in:
- Scientific Reports, 2017, p. 42480, doi. 10.1038/srep42480
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- Publication type:
- Article
The mevalonate pathway regulates primitive streak formation via protein farnesylation.
- Published in:
- Scientific Reports, 2016, p. 37697, doi. 10.1038/srep37697
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- Publication type:
- Article
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy.
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- Scientific Reports, 2016, p. 30523, doi. 10.1038/srep30523
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- Publication type:
- Article
Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031036
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- Article
Visual Outcomes After Early Vitreous Surgery for Aggressive Posterior Retinopathy of Prematurity.
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- JAMA Ophthalmology, 2013, v. 131, n. 10, p. 1309, doi. 10.1001/jamaophthalmol.2013.4148
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- Article
Development of a Premacular Vitreous Pocket.
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- JAMA Ophthalmology, 2013, v. 131, n. 8, p. 1095, doi. 10.1001/jamaophthalmol.2013.240
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- Article
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2032, doi. 10.1093/hmg/ddad034
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- Publication type:
- Article
Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0064-8
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- Publication type:
- Article
Glial extrusion from regressed retinoblastoma after conservative treatment.
- Published in:
- 2008
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- Publication type:
- Letter
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00239-8
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- Publication type:
- Article
Generation of retinal ganglion cells with functional axons from human induced pluripotent stem cells.
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- Scientific Reports, 2015, p. 8344, doi. 10.1038/srep08344
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- Publication type:
- Article
Modeling of Retina and Optic Nerve Ischemia–Reperfusion Injury through Hypoxia–Reoxygenation in Human Induced Pluripotent Stem Cell-Derived Retinal Ganglion Cells.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 2, p. 130, doi. 10.3390/cells13020130
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- Publication type:
- Article
Axial spondylometaphyseal dysplasia: Additional reports.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2521, doi. 10.1002/ajmg.a.34192
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- Publication type:
- Article
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 409, doi. 10.1002/ajmg.a.33818
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- Publication type:
- Article
The clock components Period2, Cryptochrome1a, and Cryptochrome2a function in establishing light-dependent behavioral rhythms and/or total activity levels in zebrafish.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37879-8
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- Publication type:
- Article
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359
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- Publication type:
- Article
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13678, doi. 10.3390/ijms241813678
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- Publication type:
- Article
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2017, v. 255, n. 4, p. 719, doi. 10.1007/s00417-016-3552-2
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- Publication type:
- Article
Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 11, p. 2197, doi. 10.1007/s00417-016-3385-z
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- Publication type:
- Article
The role of vitreoretinal traction in the pathogenesis of maculopathy associated with optic disc pits.
- Published in:
- 2016
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- Publication type:
- Letter
Abnormal traction of the vitreous detected by swept-source optical coherence tomography is related to the maculopathy associated with optic disc pits.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 4, p. 675, doi. 10.1007/s00417-015-3114-z
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- Publication type:
- Article
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2008, v. 246, n. 3, p. 453, doi. 10.1007/s00417-007-0741-z
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- Publication type:
- Article
Scleral window surgery and topical mitomycin C for nanophthalmic uveal effusion complicated by renal failure: case report.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2007, v. 245, n. 5, p. 755, doi. 10.1007/s00417-006-0403-6
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- Publication type:
- Article
Clinical presentations of acquired comitant esotropia in 5–35 years old Japanese and digital device usage: a multicenter registry data analysis study.
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- Japanese Journal of Ophthalmology, 2023, v. 67, n. 6, p. 629, doi. 10.1007/s10384-023-01023-5
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- Publication type:
- Article
National survey of amblyopia treatment in Japan: comparison with amblyopia treatment study results of the pediatric eye disease investigator group.
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- Japanese Journal of Ophthalmology, 2023, v. 67, n. 1, p. 97, doi. 10.1007/s10384-022-00968-3
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- Publication type:
- Article
Effectiveness of the Spot Vision Screener in screening 3-year-old children with potential amblyopia in Japan.
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- Japanese Journal of Ophthalmology, 2021, v. 65, n. 4, p. 537, doi. 10.1007/s10384-021-00823-x
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- Article
Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.
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- Japanese Journal of Ophthalmology, 2020, v. 64, n. 6, p. 613, doi. 10.1007/s10384-020-00768-7
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- Article
Incidence of side effects of topical atropine sulfate and cyclopentolate hydrochloride for cycloplegia in Japanese children: a multicenter study.
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- Japanese Journal of Ophthalmology, 2018, v. 62, n. 5, p. 531, doi. 10.1007/s10384-018-0612-7
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- Publication type:
- Article
Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy.
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- Japanese Journal of Ophthalmology, 2018, v. 62, n. 1, p. 63, doi. 10.1007/s10384-017-0547-4
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- Publication type:
- Article
Long-term surgical outcome of conventional trabeculotomy for childhood glaucoma.
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- Japanese Journal of Ophthalmology, 2017, v. 61, n. 3, p. 237, doi. 10.1007/s10384-017-0506-0
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- Article
Survey of microphthalmia in Japan.
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- Japanese Journal of Ophthalmology, 2012, v. 56, n. 3, p. 198, doi. 10.1007/s10384-012-0126-7
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- Publication type:
- Article
Nishida's procedure combined with medial rectus recession for large-angle esotropia in Duane syndrome.
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- Japanese Journal of Ophthalmology, 2011, v. 55, n. 3, p. 264, doi. 10.1007/s10384-011-0020-8
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- Publication type:
- Article
Endogenous candida chorioretinitis in a healthy infant.
- Published in:
- 2010
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- Publication type:
- Letter
Choroidal neovascularization in a child following laser pointer-induced macular injury.
- Published in:
- 2010
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- Publication type:
- Letter
Congenital rotated macula with good vision and binocular function.
- Published in:
- Japanese Journal of Ophthalmology, 2009, v. 53, n. 5, p. 452, doi. 10.1007/s10384-009-0694-3
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- Publication type:
- Article
Retinal hemorrhages and damages from tractional forces associated with infantile abusive head trauma evaluated by wide-field fundus photography.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54664-y
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- Publication type:
- Article
Long-term surgical outcomes of pediatric cataract—multivariate analysis of prognostic factors.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49166-2
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- Publication type:
- Article
Stress-Activated Protein Kinase MKK7 Regulates Axon Elongation in the Developing Cerebral Cortex.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 46, p. 16872, doi. 10.1523/JNEUROSCI.1111-11.2011
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- Publication type:
- Article