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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
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
- Published in:
- Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 173, doi. 10.1007/s10633-024-09971-0
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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
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- Publication type:
- Article
Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).
- Published in:
- Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 281, doi. 10.1007/s10633-023-09935-w
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- Publication type:
- Article
Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.
- Published in:
- Documenta Ophthalmologica, 2022, v. 144, n. 3, p. 227, doi. 10.1007/s10633-022-09874-y
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- Publication type:
- Article
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.
- Published in:
- Documenta Ophthalmologica, 2022, v. 144, n. 1, p. 67, doi. 10.1007/s10633-021-09859-3
- By:
- Publication type:
- Article
Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 3, p. 323, doi. 10.1007/s10633-021-09842-y
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- Publication type:
- Article
Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
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
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 85, doi. 10.1007/s10633-021-09823-1
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- Publication type:
- Article
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 2, p. 265, doi. 10.1007/s10633-020-09798-5
- By:
- Publication type:
- Article
Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 87, doi. 10.1007/s10633-020-09782-z
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- Publication type:
- Article
Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.
- Published in:
- Documenta Ophthalmologica, 2020, v. 141, n. 2, p. 195, doi. 10.1007/s10633-020-09764-1
- By:
- Publication type:
- Article
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.
- Published in:
- Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5
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- Publication type:
- Article
Electroretinographic abnormalities associated with pregabalin: a case report.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 3, p. 279, doi. 10.1007/s10633-019-09743-1
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- Publication type:
- Article
Electroretinograms of eyes with Stickler syndrome.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 3, p. 233, doi. 10.1007/s10633-019-09739-x
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- Publication type:
- Article
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 147, doi. 10.1007/s10633-019-09727-1
- By:
- Publication type:
- Article
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
- Published in:
- Documenta Ophthalmologica, 2019, v. 138, n. 3, p. 229, doi. 10.1007/s10633-019-09679-6
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- Publication type:
- Article
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.
- Published in:
- Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 141, doi. 10.1007/s10633-017-9577-y
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- Publication type:
- Article
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
- Published in:
- Documenta Ophthalmologica, 2015, v. 130, n. 3, p. 189, doi. 10.1007/s10633-015-9488-8
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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
Arsenic-containing ribofuranosides and dimethylarsinic acid in green seaweed, Codium fragile.
- Published in:
- Applied Organometallic Chemistry, 1988, v. 2, n. 4, p. 365, doi. 10.1002/aoc.590020414
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- Publication type:
- Article
Improvement in S-cone--mediated visual fields and rod function after correction of vitamin A deficiency.
- Published in:
- European Journal of Ophthalmology, 2011, v. 21, n. 5, p. 657, doi. 10.5301/EJO.2011.6337
- By:
- 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
- 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
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas.
- Published in:
- Ophthalmic Genetics, 2024, v. 45, n. 2, p. 186, doi. 10.1080/13816810.2023.2245464
- By:
- Publication type:
- Article
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
- Published in:
- 2021
- By:
- Publication type:
- Report
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
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
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.
- Published in:
- Ophthalmic Genetics, 2017, v. 38, n. 3, p. 286, doi. 10.1080/13816810.2016.1193880
- By:
- Publication type:
- Article
A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.
- Published in:
- Ophthalmic Genetics, 2016, v. 37, n. 3, p. 354, doi. 10.3109/13816810.2015.1066829
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- Publication type:
- Article
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
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
- Published in:
- Ophthalmic Genetics, 2004, v. 25, n. 2, p. 81, doi. 10.1080/13816810490514270
- By:
- Publication type:
- Article
Chemical constituents of an Uzbek medicinal plant, Perovskia scrophularifolia.
- Published in:
- Journal of Natural Medicines, 2007, v. 61, n. 1, p. 84, doi. 10.1007/s11418-006-0023-9
- By:
- Publication type:
- Article
Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 90, doi. 10.1038/8798
- By:
- 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
- By:
- Publication type:
- Article
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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- Publication type:
- Article
Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.
- Published in:
- Japanese Journal of Ophthalmology, 2024, v. 68, n. 3, p. 167, doi. 10.1007/s10384-024-01060-8
- 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
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
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
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
- By:
- Publication type:
- Article
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.
- 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:
- 2014
- By:
- Publication type:
- Journal Article