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Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.
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- Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5
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- Article
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
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- Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 147, doi. 10.1007/s10633-019-09727-1
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- Article
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
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- Documenta Ophthalmologica, 2018, v. 137, n. 1, p. 47, doi. 10.1007/s10633-018-9649-7
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- Article
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 521, doi. 10.1038/jhg.2014.65
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Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 484, doi. 10.1038/jhg.2011.45
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Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.
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- Journal of Human Genetics, 2010, v. 55, n. 12, p. 796, doi. 10.1038/jhg.2010.115
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- Article
Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.
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- Journal of Human Genetics, 2010, v. 55, n. 10, p. 701, doi. 10.1038/jhg.2010.83
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Three novel mutations of the PAX6 gene in Japanese aniridia patients.
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- Journal of Human Genetics, 2007, v. 52, n. 7, p. 571, doi. 10.1007/s10038-007-0153-2
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- Article
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
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- Ophthalmic Genetics, 2023, v. 44, n. 5, p. 480, doi. 10.1080/13816810.2022.2141788
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- Article
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
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- Ophthalmic Genetics, 2020, v. 41, n. 2, p. 175, doi. 10.1080/13816810.2020.1744019
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- Article
Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene.
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- Ophthalmic Genetics, 2014, v. 35, n. 1, p. 25, doi. 10.3109/13816810.2013.768673
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- Article
Clinical features of a Japanese case with Bothnia dystrophy.
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- Ophthalmic Genetics, 2012, v. 33, n. 2, p. 83, doi. 10.3109/13816810.2011.634877
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- Article
Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa.
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- Ophthalmic Genetics, 2008, v. 29, n. 1, p. 29, doi. 10.1080/13816810701663535
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- Article
Secondary mutations of mitochondrial DNA in Japanese patients withLeber's hereditary optic neuropathy.
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- Ophthalmic Genetics, 1999, v. 20, n. 3, p. 153, doi. 10.1076/opge.20.3.153.2281
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- Article
Analysis of phosducin as a candidate gene for retinopathies.
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- Ophthalmic Genetics, 1996, v. 17, n. 1, p. 3, doi. 10.3109/13816819609057863
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- Article
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1518, doi. 10.3390/ijms20061518
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- Article
Ocular genetics in the Japanese population.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 5, p. 401, doi. 10.1007/s10384-024-01109-8
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- Article
Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 4, p. 389, doi. 10.1007/s10384-024-01063-5
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- Article
Intraocular pressure changes at different gaze positions after superior rectus muscle-lateral rectus muscle loop myopexy in highly myopic strabismus.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 1, p. 26, doi. 10.1007/s10384-023-01032-4
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- Article
Steroid-induced ocular hypertensive response in pediatric patients with acute lymphoblastic leukemia.
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- Japanese Journal of Ophthalmology, 2023, v. 67, n. 4, p. 396, doi. 10.1007/s10384-023-01005-7
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- Article
Intraocular pressure at different gaze positions in patients with highly myopic strabismus.
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- Japanese Journal of Ophthalmology, 2022, v. 66, n. 6, p. 572, doi. 10.1007/s10384-022-00939-8
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- Article
Exophthalmos associated with chronic progressive external ophthalmoplegia.
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- Japanese Journal of Ophthalmology, 2022, v. 66, n. 3, p. 314, doi. 10.1007/s10384-022-00920-5
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- Article
Clinical findings of acute acquired comitant esotropia in young patients.
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- Japanese Journal of Ophthalmology, 2022, v. 66, n. 1, p. 87, doi. 10.1007/s10384-021-00879-9
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- Article
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
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- Japanese Journal of Ophthalmology, 2021, v. 65, n. 3, p. 338, doi. 10.1007/s10384-021-00824-w
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- Article
Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.
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- Japanese Journal of Ophthalmology, 2021, v. 65, n. 1, p. 23, doi. 10.1007/s10384-020-00782-9
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- Article
Changes in conjunctival-scleral thickness after strabismus surgery measured with anterior segment optical coherence tomography.
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- Japanese Journal of Ophthalmology, 2018, v. 62, n. 5, p. 554, doi. 10.1007/s10384-018-0609-2
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- Article
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
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- Japanese Journal of Ophthalmology, 2018, v. 62, n. 4, p. 458, doi. 10.1007/s10384-018-0591-8
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- Article
Long-term clinical course of 2 Japanese patients with <italic>PRPF31</italic>-related retinitis pigmentosa.
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- Japanese Journal of Ophthalmology, 2018, v. 62, n. 2, p. 186, doi. 10.1007/s10384-017-0560-7
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- Article
Characteristics and surgical outcomes of consecutive exotropia of different etiologies.
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- Japanese Journal of Ophthalmology, 2015, v. 59, n. 5, p. 335, doi. 10.1007/s10384-015-0395-z
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- Article
Central corneal thickness in Japanese children.
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- Japanese Journal of Ophthalmology, 2009, v. 53, n. 1, p. 7, doi. 10.1007/s10384-008-0619-6
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- Article
Curative effect of HF10 on liver and peritoneal metastasis mediated by host antitumor immunity.
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- Oncolytic Virotherapy, 2017, v. 6, p. 31, doi. 10.2147/OV.S127179
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- Article
Combination therapy of oncolytic herpes simplex virus HF10 and bevacizumab against experimental model of human breast carcinoma xenograft.
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- International Journal of Cancer, 2015, v. 136, n. 7, p. 1718, doi. 10.1002/ijc.29163
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- Article
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
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- Journal of Ophthalmology, 2015, v. 2015, p. 1, doi. 10.1155/2015/693468
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- Article
Novel mutations in the myocilin gene in Japanese glaucoma patients.
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- Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M
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- Article
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
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- Human Mutation, 1999, v. 13, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1
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- Article
Early Detection of Thinning of Retinal Nerve Fiber Layer in Glaucomatous Eyes by Optical Coherence Tomography 3000: Analysis of Retinal Nerve Fiber Layer Corresponding to the Preserved Hemivisual Field.
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- Ophthalmic Research, 2006, v. 38, n. 1, p. 29, doi. 10.1159/000088549
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- Article
Analysis of Herpes Virus Group (DNA) from Cerebrospinal Fluid in Vogt-Koyanagi-Harada Disease.
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- Ocular Immunology & Inflammation, 1996, v. 4, n. 2, p. 99, doi. 10.3109/09273949609079639
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- Article
PRESENCE AND QUANTIFICATION OF NEUROPEPTIDE Y IN PULMONARY EDEMA FLUIDS IN RATS.
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- Experimental Lung Research, 2000, v. 26, n. 3, p. 137, doi. 10.1080/019021400269835
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- Article
Medial Rectus Muscle Resection Versus Plication: A Comparison of Conjunctival-Scleral Thickness Measured by AS-OCT.
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- Journal of Pediatric Ophthalmology & Strabismus, 2022, v. 59, n. 4, p. 274, doi. 10.3928/01913913-20220131-02
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- Publication type:
- Article
Effects of the Gaze Fixation Position on AS-OCT Measurements of the Limbus and Extraocular Muscle Insertion Site Distance.
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- Journal of Pediatric Ophthalmology & Strabismus, 2021, v. 58, n. 1, p. 28, doi. 10.3928/01913913-20201007-01
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- Article
Multicentric atypical teratoid/rhabdoid tumors occurring in the eye and fourth ventricle of an infant.
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- Journal of Neurosurgery, 2005, v. 102, n. 3, p. 299, doi. 10.3171/ped.2005.102.3.0299
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- Article
Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778.
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- Journal of Human Genetics, 1998, v. 43, n. 4, p. 242, doi. 10.1007/s100380050081
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- Article
Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking: Possible Relationship with Glaucoma Pathology.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101206
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- Article
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.
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- Journal of Neurology, 2024, v. 271, n. 9, p. 6227, doi. 10.1007/s00415-024-12593-w
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- Article
Pattern VEPs before and after idiopathic epiretinal membrane removal.
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- Documenta Ophthalmologica, 2007, v. 114, n. 2, p. 67
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- Article
Kessler Psychological Distress (K6) Questionnaire Scores Can Predict Autistic Traits and the Current and Prospective Suicidal Ideation in Medical University Students: A Prospective Study.
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- SAGE Open, 2021, v. 11, n. 1, p. 1, doi. 10.1177/2158244021994590
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- Article
Multimodal therapy with surgery and adjuvant nivolumab for late-onset multiple liver metastases of choroidal malignant melanoma: a case report.
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- Surgical Case Reports, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40792-020-00948-0
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- Article
Coenzyme Q10 in the eye isomerizes by sunlight irradiation.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16343-8
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- Article
Genotype-Phenotype Correlations in RP1 -Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
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- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2265, doi. 10.3390/jcm10112265
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- Article
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00239-8
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- Article