Detalhe da pesquisa
1.
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
Doc Ophthalmol
; 128(3): 211-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24652164
2.
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Am J Hum Genet
; 87(3): 424-9, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826268
3.
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
Mol Vis
; 19: 2393-406, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319333
4.
Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
Mol Vis
; 19: 1580-90, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23885164
5.
[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram].
Nippon Ganka Gakkai Zasshi
; 117(8): 629-40, 2013 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-24063160
6.
The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.
Am J Epidemiol
; 176(5): 361-72, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22869612
7.
Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.
Hum Mol Genet
; 19(13): 2606-15, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20388642
8.
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
Mol Vis
; 18: 1031-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22605915
9.
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.
Retina
; 32(6): 1135-47, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466457
10.
Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.
Mol Vis
; 17: 3309-13, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22194657
11.
Distinct modes of activation of phosphatidylinositol 3-kinase in response to cyclic adenosine 3', 5'-monophosphate or insulin-like growth factor I play different roles in regulation of cyclin D1 and p27Kip1 in FRTL-5 cells.
Endocrinology
; 149(7): 3729-42, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18403485
12.
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract.
Mol Vis
; 14: 1898-905, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18958304
13.
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Ophthalmic Genet
; 37(1): 68-75, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113443
14.
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Ophthalmic Genet
; 37(2): 161-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495949
15.
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Invest Ophthalmol Vis Sci
; 57(11): 4837-46, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27623337
16.
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
Ophthalmic Genet
; 36(2): 137-44, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25605338
17.
Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits.
Acta Ophthalmol
; 93(3): e214-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25130441
18.
New method for forming large embryoid bodies using the wall of the culture dish along with an analysis of their structural characteristics.
Hum Cell
; 17(1): 49-57, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15369137
19.
New approach for the establishment of an hepatocyte cell line derived from rat early embryonic stem cells.
Hum Cell
; 16(1): 39-46, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12971624
20.
Overexpression of HtrA1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice.
Invest Ophthalmol Vis Sci
; 55(10): 6514-23, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205867