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1.
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
Hum Mol Genet
; 32(12): 2032-2045, 2023 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36851842
2.
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
Int J Mol Sci
; 24(18)2023 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37761981
3.
Effect of Intravitreal Aflibercept vs Laser Photocoagulation on Treatment Success of Retinopathy of Prematurity: The FIREFLEYE Randomized Clinical Trial.
JAMA
; 328(4): 348-359, 2022 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35881122
4.
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.
J Hum Genet
; 66(10): 1021-1027, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33640901
5.
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
J Hum Genet
; 66(2): 205-214, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32908217
6.
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
Int J Mol Sci
; 20(6)2019 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30917587
7.
ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION.
Retina
; 38(8): 1605-1612, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28800017
8.
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography.
Graefes Arch Clin Exp Ophthalmol
; 255(4): 719-723, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27853955
9.
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
Endocr J
; 64(8): 813-817, 2017 Aug 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-28659543
10.
Guidance of Medical Care for Familial Exudative Vitreoretinopathyï¼Research on Rare and Intractable Diseases, Health and Labour Sciences Research Grants.
Nippon Ganka Gakkai Zasshi
; 121(6): 487-97, 2017 Jun.
Artículo
en Japonés
| MEDLINE | ID: mdl-30088717
11.
Correction to: Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
J Hum Genet
; 66(6): 645, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33504884
12.
Successful scleral buckling of late-onset visual decrease in eye with retinal folds.
Doc Ophthalmol
; 133(2): 145-149, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27553815
13.
Abnormal traction of the vitreous detected by swept-source optical coherence tomography is related to the maculopathy associated with optic disc pits.
Graefes Arch Clin Exp Ophthalmol
; 254(4): 675-82, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26245337
14.
Outer retinal deformity detected by optical coherence tomography in eyes with foveal hypoplasia.
Graefes Arch Clin Exp Ophthalmol
; 254(11): 2197-2201, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27216762
15.
Derivation of human differential photoreceptor cells from adult human dermal fibroblasts by defined combinations of CRX, RAX, OTX2 and NEUROD.
Genes Cells
; 19(3): 198-208, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24456169
16.
Two-step transplantation for primary hyperoxaluria: a winning strategy to prevent progression of systemic oxalosis in early onset renal insufficiency cases.
Pediatr Transplant
; 19(1): E1-6, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25323048
17.
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
J Hum Genet
; 59(6): 353-6, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24804704
18.
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A
; 164A(5): 1272-6, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664492
19.
Retinal hemorrhages and damages from tractional forces associated with infantile abusive head trauma evaluated by wide-field fundus photography.
Sci Rep
; 14(1): 5246, 2024 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38438406
20.
Modeling of Retina and Optic Nerve Ischemia-Reperfusion Injury through Hypoxia-Reoxygenation in Human Induced Pluripotent Stem Cell-Derived Retinal Ganglion Cells.
Cells
; 13(2)2024 01 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38247823