Detalhe da pesquisa
1.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
2.
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
Int J Mol Sci
; 21(24)2020 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33302512
3.
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type.
Optom Vis Sci
; 94(3): 297-310, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28099241
4.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325361
5.
Recurrent episodes of night blindness in a patient with short bowel syndrome.
Doc Ophthalmol
; 131(3): 221-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507840
6.
Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy.
Doc Ophthalmol
; 129(3): 191-202, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25300407
7.
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Am J Hum Genet
; 87(3): 376-81, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20705278
8.
Neural correlates of visual search in patients with hereditary retinal dystrophies.
Hum Brain Mapp
; 34(10): 2607-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505353
9.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 720-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19896113
10.
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
Doc Ophthalmol
; 125(1): 81-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22674428
11.
Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
Retina
; 32(7): 1411-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466470
12.
Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies.
Neuroimage
; 56(3): 1556-65, 2011 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21352929
13.
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Eur J Hum Genet
; 16(7): 812-9, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285826
14.
Fundus autofluorescence and mfERG for early detection of retinal alterations in patients using chloroquine/hydroxychloroquine.
Invest Ophthalmol Vis Sci
; 47(8): 3531-8, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16877425
15.
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Ophthalmology
; 113(11): 2066.e1-10, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16935340
16.
Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
Ophthalmology
; 112(4): 586-92, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15808248
17.
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Invest Ophthalmol Vis Sci
; 53(4): 2112-8, 2012 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22427542
18.
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
Arch Ophthalmol
; 127(7): 907-12, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19597113
19.
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
Am J Ophthalmol
; 147(3): 518-530.e1, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19038374
20.
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Doc Ophthalmol
; 116(2): 97-109, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17987333