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High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.
- Published in:
- 2016
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- Publication type:
- journal article
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Carboxylated phytosterol derivative-introduced liposomes for skin environment-responsive transdermal drug delivery system.
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- Journal of Liposome Research, 2018, v. 28, n. 4, p. 275, doi. 10.1080/08982104.2017.1369995
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- Publication type:
- Article
Specific reaction of Met 35 in amyloid beta peptide with hypochlorous acid.
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- Free Radical Research, 2010, v. 44, n. 7, p. 734, doi. 10.3109/10715761003745954
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- Publication type:
- Article
Spontaneous Improvement of Visual Acuity in a 13-Year-Old Boy with Neuromyelitis Optica Spectrum Disorder.
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- Neuro-Ophthalmology, 2019, v. 43, n. 2, p. 114, doi. 10.1080/01658107.2018.1483951
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- Publication type:
- Article
Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg).
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- Neuro-Ophthalmology, 2014, v. 38, n. 6, p. 331, doi. 10.3109/01658107.2014.950430
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- Publication type:
- Article
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas.
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- Ophthalmic Genetics, 2024, v. 45, n. 2, p. 186, doi. 10.1080/13816810.2023.2245464
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- 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
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- Publication type:
- Report
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.
- Published in:
- 2020
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- 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
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- Publication type:
- Article
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
- Published in:
- 2018
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- 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
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- Publication type:
- Article
A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.
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- 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.
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- Ophthalmic Genetics, 2016, v. 37, n. 2, p. 161, doi. 10.3109/13816810.2014.991931
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- Publication type:
- Article
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
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- Ophthalmic Genetics, 2016, v. 37, n. 1, p. 68, doi. 10.3109/13816810.2014.949380
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- Publication type:
- Article
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
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- Ophthalmic Genetics, 2015, v. 36, n. 2, p. 137, doi. 10.3109/13816810.2014.991932
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- Publication type:
- Article
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
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- Ophthalmic Genetics, 2004, v. 25, n. 2, p. 81, doi. 10.1080/13816810490514270
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- Publication type:
- Article
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
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- Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
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- Publication type:
- Article
Cover, Volume 42, Issue 2.
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- Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169
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- Publication type:
- Article
New variants and in silico analyses in GRK1 associated Oguchi disease.
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- Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140
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- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
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- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
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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.
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- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1442107
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- 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
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- Publication type:
- Article
Transient Increase in Circulating Basophils and Eosinophils in Dupilumab-associated Conjunctivitis in Patients with Atopic Dermatitis.
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- Acta Dermato-Venereologica, 2021, v. 101, n. 6, p. 1, doi. 10.2340/00015555-3842
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- Publication type:
- Article
Efficacy of reduced-fluence photodynamic therapy for serous retinal pigment epithelial detachment with choroidal hyperpermeability.
- Published in:
- 2013
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- Publication type:
- Case Study
Choroidal neovascularization after blunt ocular trauma in angioid streaks.
- Published in:
- Clinical Ophthalmology, 2013, v. 7, p. 1347, doi. 10.2147/OPTH.S45818
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- Publication type:
- Article
Chemical constituents of an Uzbek medicinal plant, Perovskia scrophularifolia.
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- Journal of Natural Medicines, 2007, v. 61, n. 1, p. 84, doi. 10.1007/s11418-006-0023-9
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- Publication type:
- Article
Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
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- 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
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
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- Japanese Journal of Ophthalmology, 2017, v. 61, n. 1, p. 92, doi. 10.1007/s10384-016-0484-7
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- Publication type:
- Article
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
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- Japanese Journal of Ophthalmology, 2016, v. 60, n. 6, p. 476, doi. 10.1007/s10384-016-0470-0
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- Publication type:
- Article
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29891-9
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- Publication type:
- Article
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.
- Published in:
- 2014
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- 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
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
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
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- Publication type:
- Article
Elective neck dissection for T3–T4N0 laryngeal carcinoma: evidence from Japan's National Head and Neck Cancer Registry.
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- International Journal of Clinical Oncology, 2023, v. 28, n. 2, p. 209, doi. 10.1007/s10147-022-02275-w
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- Publication type:
- Article
Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 3, p. 167, doi. 10.1007/s10384-024-01060-8
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- Publication type:
- Article
High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.
- Published in:
- 2019
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- Publication type:
- journal 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
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- Publication type:
- Article
Configuration of the neoaortic root after chimney reconstruction in the Norwood procedure.
- Published in:
- European Journal of Cardio-Thoracic Surgery, 2024, v. 65, n. 4, p. 1, doi. 10.1093/ejcts/ezae103
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- Publication type:
- Article
Genome mining of the sordarin biosynthetic gene cluster from Sordaria araneosa Cain ATCC 36386: characterization of cycloaraneosene synthase and GDP-6-deoxyaltrose transferase.
- Published in:
- Journal of Antibiotics, 2016, v. 69, n. 7, p. 541, doi. 10.1038/ja.2016.40
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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
Increased Iron and Free Radical Generation in Preclinical Alzheimer Disease and Mild Cognitive Impairment.
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- Journal of Alzheimer's Disease, 2010, v. 19, n. 1, p. 363, doi. 10.3233/JAD-2010-1239
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- Publication type:
- Article
Reexamining Alzheimer's disease: evidence for a protective role for amyloid-beta protein precursor and amyloid-beta.
- Published in:
- 2009
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- Publication type:
- journal article
Reexamining Alzheimer's Disease: Evidence for a Protective Role for Amyloid-β Protein Precursor and Amyloid-β.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 2, p. 447, doi. 10.3233/JAD-2009-1151
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- 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
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- Publication type:
- Article
Choroidal neovascularization in angioid streaks following microincision vitrectomy surgery: a case report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Choroidal neovascularization in angioid streaks following microincision vitrectomy surgery: a case report.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Diphenylprolinol Silyl Ethers as Efficient Organocatalysts for the Asymmetric Michael Reaction of Aldehydes and NitroalkenesWe thank Prof. K. Saigo and Dr. Y. Ishida (The University of Tokyo) for the use of a high-pressure mercury lamp. This work was partially supported by a Grand-in-Aid for Scientific Research on Priority Area (A): “Creation of Biologically Functional Molecules”, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.
- Published in:
- Angewandte Chemie, 2005, v. 117, n. 27, p. 4284, doi. 10.1002/ange.200500599
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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
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- Publication type:
- Article