Detalhe da pesquisa
1.
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Hum Mutat
; 43(12): 2251-2264, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36284460
2.
Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).
Doc Ophthalmol
; 142(1): 87-98, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32648025
3.
RETINAL SURFACE WRINKLING AS AN INDICATOR FOR INTERNAL LIMITING MEMBRANE PEELING DURING VITRECTOMY FOR RETINAL DETACHMENT.
Retina
; 41(8): 1618-1626, 2021 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34397965
4.
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Am J Med Genet C Semin Med Genet
; 184(3): 694-707, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845068
5.
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Am J Med Genet C Semin Med Genet
; 184(3): 675-693, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875684
6.
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
Am J Med Genet C Semin Med Genet
; 184(3): 656-674, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820593
7.
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Retina
; 40(1): 181-186, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308565
8.
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
Int J Mol Sci
; 21(4)2020 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32079136
9.
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Mol Vis
; 25: 559-573, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673222
10.
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Ophthalmology
; 126(10): 1432-1444, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028767
11.
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.
Doc Ophthalmol
; 139(3): 171-184, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286363
12.
POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA.
Retina
; 39(7): 1299-1304, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29708934
13.
LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.
J Hum Genet
; 63(8): 893-900, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760528
14.
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology
; 125(5): 735-746, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310964
15.
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.
Doc Ophthalmol
; 134(2): 141-147, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28197754
16.
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Ophthalmology
; 122(2): 326-34, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25312043
17.
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Doc Ophthalmol
; 131(1): 71-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25827439
18.
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
Doc Ophthalmol
; 130(1): 49-55, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323024
19.
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
Doc Ophthalmol
; 128(3): 219-28, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24752437
20.
Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.
Jpn J Ophthalmol
; 68(3): 167-173, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38568448