Kentaro Kurata

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Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Japanese Journal of Ophthalmology.

Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.

T. Nakazawa, R. Kawasaki, A. Murakami, 2019, Ophthalmology.

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

Y. Kamatani, T. Nakazawa, M. Kubo, 2019, Journal of Medical Genetics.

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Y. Hayashizaki, M. Itoh, H. Kawaji, 2020, Scientific Reports.

Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations

H. Nakanishi, S. Minoshima, K. Mizuta, 2015, Seminars in ophthalmology.

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Documenta Ophthalmologica.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Y. Hayashizaki, H. Kawaji, K. Tsubota, 2020, Scientific Reports.

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants

T. Matsuura, K. Yoshitake, Takaaki Hayashi, 2018, Molecular vision.

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants

T. Ogata, H. Saitsu, Miho Sato, 2022, Ophthalmic genetics.

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

S. Minoshima, M. Ohtsubo, Miho Sato, 2020, Journal of Human Genetics.

Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2017, Case Reports in Ophthalmology.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Y. Hayashizaki, H. Kawaji, K. Tsubota, 2020, Scientific Reports.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

S. Minoshima, M. Ohtsubo, Miho Sato, 2019, Human Genome Variation.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

S. Minoshima, M. Ohtsubo, Miho Sato, 2019, Human Genome Variation.

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

S. Minoshima, M. Ohtsubo, Miho Sato, 2020, Journal of human genetics.

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

S. Minoshima, H. Saitsu, T. Fukao, 2020, Ophthalmic genetics.

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

M. Kondo, Takaaki Hayashi, T. Nakano, 2019, Documenta Ophthalmologica.

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miho Sato, T. Yokoi, S. Nishina, 2019, Human Genome Variation.

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miho Sato, T. Yokoi, S. Nishina, 2019, Human Genome Variation.

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

H. Saitsu, M. Katsuno, Masakazu Takayama, 2022, American journal of ophthalmology case reports.

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

K. Higasa, T. Matsuura, K. Yoshitake, 2021, Journal of clinical medicine.

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers

Miho Sato, Takaaki Hayashi, T. Nakano, 2019, International journal of molecular sciences.

Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children

Miho Sato, Akiko Hikoya, Y. Hotta, 2020, Japanese Journal of Ophthalmology.

Novel Compound Heterozygous Mutation of the MC2R Gene in a Patient with Familial Glucocorticoid Deficiency

M. Shiohara, H. Matsuura, Kentaro Kurata, 2006, Journal of pediatric endocrinology & metabolism : JPEM.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Y. Wada, S. Nomura, T. Ogata, 2022, Genes.

Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient

T. Matsuura, Takaaki Hayashi, T. Nakano, 2020, Documenta Ophthalmologica.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

S. Minoshima, T. Ogata, H. Saitsu, 2018, Japanese Journal of Ophthalmology.

Regional differences in genes and variants causing retinitis pigmentosa in Japan

Y. Kamatani, T. Nakazawa, M. Kubo, 2021, Japanese Journal of Ophthalmology.

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

S. Minoshima, H. Saitsu, Miho Sato, 2018, Scientific Reports.

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

S. Minoshima, Miho Sato, Akiko Hikoya, 2015, Journal of ophthalmology.

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Japanese Journal of Ophthalmology.

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Documenta Ophthalmologica.