Detalhe da pesquisa
1.
Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial.
Lancet
; 403(10438): 1766-1778, 2024 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38704172
2.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
Inglês
| MEDLINE | ID: mdl-20074521
3.
USE OF HAND-HELD OPTICAL COHERENCE TOMOGRAPHY DURING RETINOPATHY OF PREMATURITY SCREENING DEMONSTRATES AN INCREASED OUTER RETINA FROM EARLY POSTMENSTRUAL AGE IN PRETERM INFANTS WITH RETINOPATHY OF PREMATURITY.
Retina
; 44(2): 306-315, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37824817
4.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35332618
5.
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Hum Mol Genet
; 29(18): 2989-3002, 2020 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32744312
6.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
; 129(6): 708-718, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35157951
7.
Handheld Optical Coherence Tomography in a Young Infant With Albinism and Fovea Plana.
J Neuroophthalmol
; 41(2): e200-e201, 2021 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32956229
8.
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Int J Mol Sci
; 22(5)2021 Mar 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33806565
9.
Can Structural Grading of Foveal Hypoplasia Predict Future Vision in Infantile Nystagmus?: A Longitudinal Study.
Ophthalmology
; 127(4): 492-500, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31937464
10.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Brain
; 142(6): 1528-1534, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31009037
11.
POTENTIAL UTILITY OF FOVEAL MORPHOLOGY IN PRETERM INFANTS MEASURED USING HAND-HELD OPTICAL COHERENCE TOMOGRAPHY IN RETINOPATHY OF PREMATURITY SCREENING.
Retina
; 40(8): 1592-1602, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31356497
12.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30825406
13.
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Am J Hum Genet
; 98(6): 1220-1227, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27181683
14.
Aberrant visual pathway development in albinism: From retina to cortex.
Hum Brain Mapp
; 40(3): 777-788, 2019 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30511784
15.
The treatment of amblyopia: current practice and emerging trends.
Graefes Arch Clin Exp Ophthalmol
; 257(6): 1061-1078, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30706134
16.
Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans.
J Neuroophthalmol
; 43(4): e313-e315, 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34924531
17.
Altered whole-brain connectivity in albinism.
Hum Brain Mapp
; 38(2): 740-752, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27684406
18.
Abnormal retinal development associated with FRMD7 mutations.
Hum Mol Genet
; 23(15): 4086-93, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24688117
19.
Retinal development in albinism: a prospective study using optical coherence tomography in infants and young children.
Lancet
; 385 Suppl 1: S14, 2015 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-26312836
20.
The Development of a Nystagmus-Specific Quality-of-Life Questionnaire.
Ophthalmology
; 123(9): 2023-7, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27365177