Detalhe da pesquisa
1.
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
J Hum Genet
; 60(5): 259-65, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716912
2.
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
J Hum Genet
; 59(9): 521-8, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078356
3.
Mizuo-Nakamura phenomenon in X-linked retinoschisis.
Am J Ophthalmol Case Rep
; 26: 101529, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35479517
4.
Oguchi disease masked by retinitis pigmentosa.
Doc Ophthalmol
; 123(2): 127-33, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21922265
5.
[A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection].
Nippon Ganka Gakkai Zasshi
; 115(10): 916-23, 2011 Oct.
Artigo
em Japonês
| MEDLINE | ID: mdl-22117325
6.
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
J Ophthalmol
; 2015: 819760, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26161267
7.
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.
Nat Commun
; 4: 1406, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23360997
8.
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
Nat Genet
; 44(5): 593-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466612
9.
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
PLoS One
; 7(2): e31036, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22363543
10.
Use of lectins to enrich mouse ES-derived retinal progenitor cells for the purpose of transplantation therapy.
Cell Transplant
; 19(1): 9-19, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19818205
11.
Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.
Invest Ophthalmol Vis Sci
; 49(9): 3799-805, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18450588
12.
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.
Mol Cell
; 26(2): 231-43, 2007 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-17466625