List of works - Satoshi Katagiri

A high-resolution physical map integrating an anchored chromosome with the BAC physical maps of wheat chromosome 6B.

scientific article

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy

scientific article published on 08 February 2016

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

scientific article published on 27 June 2016

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

scientific article published on 20 August 2017

ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION

scientific article published on 01 August 2018

Atypical intravitreal growth of retinoblastoma with a multi-branching configuration.

scientific article published on 12 April 2017

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

scientific article published on 9 April 2018

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene

scientific article published on 21 March 2014

CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

scientific article published on 01 January 2020

CLINICAL COURSE OF PARANEOPLASTIC RETINOPATHY WITH ANTI-TRPM1 AUTOANTIBODY IN JAPANESE COHORT

scientific article published on 01 December 2019

Characteristics of Retinal Breaks and Surgical Outcomes in Rhegmatogenous Retinal Detachment in Familial Exudative Vitreoretinopathy

scientific article published on 29 December 2017

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

scientific article published on 14 November 2019

Choroidal neovascularization in angioid streaks following microincision vitrectomy surgery: a case report.

scientific article

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy

scientific article published on 16 February 2020

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

scientific article published on 12 June 2020

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort

scientific article published on 6 May 2016

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation

scientific article

Clinical findings of end-stage retinitis pigmentosa with a homozygous variant (p.R653X)

scientific article published on 19 December 2018

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

scientific article published on 03 October 2019

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome

scientific article published in Scientific Reports

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

scientific article published on 21 January 2015

Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography

scientific article published on 16 November 2016

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

scientific article published on 9 April 2018

Electroretinographic abnormalities associated with pregabalin: a case report

scientific article published on 03 January 2020

Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy.

scientific article published on 26 July 2016

Fundus autofluorescence findings of acute posterior multifocal placoid pigment epitheliopathy with chronic thyroiditis and splenectomy

scientific article published on 03 September 2014

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

scientific article published on 26 March 2020

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

scientific article published on 31 July 2018

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy

scientific article

High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation

scientific article

High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia

scientific article published on 01 February 2019

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

Long-term surgical outcome of conventional trabeculotomy for childhood glaucoma

scientific article published on 16 March 2017

Longitudinal follow-up of two patients with isolated paracentral acute middle maculopathy.

scientific article published on 6 May 2019

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

scientific article

Multimodal imaging of a case of peripheral cone dystrophy

scientific article

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy

scientific article published on 22 July 2015

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

scientific article published on September 2016

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

scientific article published on 15 March 2019

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 gene in Japanese patients with X-linked congenital retinoschisis

article

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina

scientific article

Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P)

scientific article published on 17 May 2014

Optical coherence tomography and video recording of a case of bilateral contractile peripapillary staphyloma

Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia

scientific article published on 23 May 2016

PARACENTRAL ACUTE MIDDLE MACULOPATHY AFTER ENDOVASCULAR COIL EMBOLIZATION

scientific article published on 13 July 2018

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

scientific article published on 01 August 2019

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

scientific article

Reconstruction of Photoreceptor Outer Layers after Steroid Therapy in Solar Retinopathy.

scientific article published on 11 June 2018

Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.

scientific article published on 16 February 2017

SEVERE RECURRENT FIBROVASCULAR PROLIFERATION AFTER COMBINED INTRAVITREAL BEVACIZUMAB INJECTION AND LASER PHOTOCOAGULATION FOR AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY

scientific article published on 17 July 2019

Shifting the limits in wheat research and breeding using a fully annotated reference genome

scientific article

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.

scientific article published on 3 February 2015

Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy

scientific article published on 21 October 2015

Successful scleral buckling of late-onset visual decrease in eye with retinal folds.

scientific article

Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy

scientific article published on 3 November 2017

Trisection technique for the extraction of dislocated intraocular lenses through a small surgical incision

scientific article published on 01 October 2015

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

scientific article

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

scientific article

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 Satoshi Katagiri

A high-resolution physical map integrating an anchored chromosome with the BAC physical maps of wheat chromosome 6B.

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION

Atypical intravitreal growth of retinoblastoma with a multi-branching configuration.

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene

CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

CLINICAL COURSE OF PARANEOPLASTIC RETINOPATHY WITH ANTI-TRPM1 AUTOANTIBODY IN JAPANESE COHORT

Characteristics of Retinal Breaks and Surgical Outcomes in Rhegmatogenous Retinal Detachment in Familial Exudative Vitreoretinopathy

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

Choroidal neovascularization in angioid streaks following microincision vitrectomy surgery: a case report.

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy

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

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation

Clinical findings of end-stage retinitis pigmentosa with a homozygous variant (p.R653X)

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

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography

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

Electroretinographic abnormalities associated with pregabalin: a case report

Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy.

Fundus autofluorescence findings of acute posterior multifocal placoid pigment epitheliopathy with chronic thyroiditis and splenectomy

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

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy

High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation

High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia

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

Long-term surgical outcome of conventional trabeculotomy for childhood glaucoma

Longitudinal follow-up of two patients with isolated paracentral acute middle maculopathy.

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

Multimodal imaging of a case of peripheral cone dystrophy

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

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

Novel mutations in the gene in Japanese patients with X-linked congenital retinoschisis

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina

Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P)

Optical coherence tomography and video recording of a case of bilateral contractile peripapillary staphyloma

Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia

PARACENTRAL ACUTE MIDDLE MACULOPATHY AFTER ENDOVASCULAR COIL EMBOLIZATION

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Reconstruction of Photoreceptor Outer Layers after Steroid Therapy in Solar Retinopathy.

Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.

SEVERE RECURRENT FIBROVASCULAR PROLIFERATION AFTER COMBINED INTRAVITREAL BEVACIZUMAB INJECTION AND LASER PHOTOCOAGULATION FOR AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY

Shifting the limits in wheat research and breeding using a fully annotated reference genome

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.

Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy

Successful scleral buckling of late-onset visual decrease in eye with retinal folds.

Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy

Trisection technique for the extraction of dislocated intraocular lenses through a small surgical incision

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

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