List of works - Yoshihiro Hotta

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

scientific article published on 30 March 2020

A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.

scientific article

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

scientific article

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

scientific article published on 09 September 2020

Analysis of Peripherin/Rds Gene for Japanese Retinal Dystrophies ⬇️

scientific article published on May 1, 1998

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I

scientific article published on 01 November 1998

Ascorbic acid concentration in rabbit vitreous measured by microdialysis with HPLC-electrochemical detection before and after vitreous surgery.

scientific article published in December 2005

Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation ⬇️

scientific article published on November 1, 2010

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

scientific article published on 19 July 2018

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA

scientific article published on 01 January 1995

Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene

scientific article published on 01 January 1992

Clinical features of a Japanese case with Bothnia dystrophy.

scientific article

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.

scientific article published on 20 February 2013

Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification.

scientific article published in November 1989

Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks

scientific article

Enhanced S-cone syndrome with subfoveal neovascularization.

scientific article

Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test

scientific article

Expression defect of ornithine aminotransferase gene in gyrate atrophy

scientific article published on 01 July 1988

Genotype-phenotype correlation of PAX6 gene mutations in aniridia

scientific article published on 11 February 2016

Homozygotic patient with betaig-h3 gene mutation in granular dystrophy.

scientific article published in May 1998

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene ⬇️

scientific article published on August 1, 1998

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

scientific article published on 01 July 1999

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

scientific article published on January 2017

Long-term follow-up of two sisters with Leber's Hereditary Optic Neuropathy.

scientific article

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

scientific article published on 27 March 2020

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene

scientific article published on 01 January 1999

Missense mutations in the PAX6 gene in aniridia

scientific article published on 01 December 1998

Molecular genetics of ornithine aminotransferase defect in gyrate atrophy

scientific article published on 01 January 1989

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

scientific article published on 13 May 2015

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

scientific article published on 26 May 2016

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.

scientific article published on 26 May 2016

Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.

scientific article

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations ⬇️

scientific article published on May 19, 2011

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

scientific article published on 29 January 2020

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy

scientific article published on 01 March 2006

Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma

scientific article published on 13 January 2006

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

scientific article published on June 1, 1992

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy

scientific article (publication date: July 2000)

REP-1 gene mutations in Japanese patients with choroideremia.

scientific article published in September 1999

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

scientific article published on 01 November 2000

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

scientific article published on 31 July 2014

Three novel mutations of the PAX6 gene in Japanese aniridia patients

scientific article published on 14 June 2007

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

scientific article

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

scientific article

Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation

scientific article published on 01 January 1998

Visual impairment and REP-1 gene mutations in Japanese choroideremia patients

scientific article published on 01 June 1999

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

scientific article published on 26 March 2019

List of works by Yoshihiro Hotta

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

A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

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

Analysis of Peripherin/Rds Gene for Japanese Retinal Dystrophies ⬇️

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I

Ascorbic acid concentration in rabbit vitreous measured by microdialysis with HPLC-electrochemical detection before and after vitreous surgery.

Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation ⬇️

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

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA

Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene

Clinical features of a Japanese case with Bothnia dystrophy.

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.

Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification.

Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks

Enhanced S-cone syndrome with subfoveal neovascularization.

Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test

Expression defect of ornithine aminotransferase gene in gyrate atrophy

Genotype-phenotype correlation of PAX6 gene mutations in aniridia

Homozygotic patient with betaig-h3 gene mutation in granular dystrophy.

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene ⬇️

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

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

Long-term follow-up of two sisters with Leber's Hereditary Optic Neuropathy.

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene

Missense mutations in the PAX6 gene in aniridia

Molecular genetics of ornithine aminotransferase defect in gyrate atrophy

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

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.

Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations ⬇️

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

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy

Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy

REP-1 gene mutations in Japanese patients with choroideremia.

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

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

Three novel mutations of the PAX6 gene in Japanese aniridia patients

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

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

Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation

Visual impairment and REP-1 gene mutations in Japanese choroideremia patients

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