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1.
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
J Med Genet
; 2024 Mar 18.
Article
in English
| MEDLINE | ID: mdl-38499336
2.
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
Doc Ophthalmol
; 148(3): 173-182, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38630375
3.
Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).
Doc Ophthalmol
; 146(3): 281-291, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37162688
4.
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Doc Ophthalmol
; 146(2): 165-171, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36574078
5.
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Doc Ophthalmol
; 147(1): 59-70, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37227616
6.
Elective neck dissection for T3-T4N0 laryngeal carcinoma: evidence from Japan's National Head and Neck Cancer Registry.
Int J Clin Oncol
; 28(2): 209-220, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36436179
7.
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.
Article
in English
| MEDLINE | ID: mdl-37761981
8.
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Hum Mutat
; 43(12): 2251-2264, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36284460
9.
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.
Doc Ophthalmol
; 144(3): 227-235, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35653045
10.
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.
Doc Ophthalmol
; 144(3): 217-226, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35284965
11.
The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.
Doc Ophthalmol
; 144(1): 67-75, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34822027
12.
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Graefes Arch Clin Exp Ophthalmol
; 260(4): 1125-1137, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34661736
13.
Case Report: Improved Choroidal Circulation in a Patient with Unilateral Acute Idiopathic Maculopathy.
Optom Vis Sci
; 99(9): 730-734, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35914093
14.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33252155
15.
Broad locations of antigenic regions for anti-TRPM1 autoantibodies in paraneoplastic retinopathy with retinal ON bipolar cell dysfunction.
Exp Eye Res
; 212: 108770, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34562437
16.
Multifunctional Traceable Liposomes with Temperature-Triggered Drug Release and Neovasculature-Targeting Properties for Improved Cancer Chemotherapy.
Mol Pharm
; 18(9): 3342-3351, 2021 09 06.
Article
in English
| MEDLINE | ID: mdl-34324363
17.
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
Doc Ophthalmol
; 142(2): 265-273, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33068213
18.
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.
Doc Ophthalmol
; 143(1): 85-91, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33544296
19.
A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.
Doc Ophthalmol
; 143(1): 107-114, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33611760
20.
Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.
Doc Ophthalmol
; 143(2): 221-228, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33738644