Found: 40
Select item for more details and to access through your institution.
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
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
- By:
- 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
ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.
- Published in:
- Journal of Ophthalmology, 2017, p. 1, doi. 10.1155/2017/1079687
- 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
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 4, p. 1125, doi. 10.1007/s00417-021-05447-y
- By:
- Publication type:
- Article
Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1500, doi. 10.1002/ajmg.a.61575
- 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
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
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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal.
- Published in:
- Case Reports in Ophthalmological Medicine, 2022, p. 1, doi. 10.1155/2022/5680913
- By:
- Publication type:
- Article
Clinical Course of OCTA en face Imaging Findings in a Patient with HELLP Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Minimally Invasive Surgery for Intraocular Lens Removal and Intrascleral Intraocular Lens Fixation with Trabeculectomy in a Patient with Dislocated Intraocular Lens and Elevated Intraocular Pressure.
- Published in:
- Case Reports in Ophthalmology, 2021, v. 12, n. 2, p. 538, doi. 10.1159/000511593
- By:
- Publication type:
- 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
- By:
- 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
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
- By:
- 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
- By:
- Publication type:
- Article
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
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
- 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
- By:
- 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
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13678, doi. 10.3390/ijms241813678
- 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
- By:
- Publication type:
- Article
Effectiveness of the Heads-Up Surgery System for Retinal Surgery in a Patient with Severe Photophobia.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
- Published in:
- Molecular Vision, 2018, v. 24, p. 286
- By:
- Publication type:
- Article