Detalhe da pesquisa
1.
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Hum Mol Genet
; 29(18): 2989-3002, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744312
2.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
; 129(6): 708-718, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157951
3.
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Int J Mol Sci
; 22(5)2021 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33806565
4.
Aberrant visual pathway development in albinism: From retina to cortex.
Hum Brain Mapp
; 40(3): 777-788, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511784
5.
Abnormal retinal development associated with FRMD7 mutations.
Hum Mol Genet
; 23(15): 4086-93, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24688117
6.
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
em Inglês
| MEDLINE | ID: mdl-26312836
7.
Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography.
Ophthalmology
; 123(10): 2147-57, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27521172
8.
Gender- and Ethnicity-Related Differences in Optic Nerve Head Topography in Healthy Indian and Caucasian Participants.
Neuroophthalmology
; 38(4): 205-212, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27928300
9.
Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors.
Invest Ophthalmol Vis Sci
; 65(2): 14, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319667
10.
Visual Field Deficits in Albinism in Comparison to Idiopathic Infantile Nystagmus.
Invest Ophthalmol Vis Sci
; 65(2): 13, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319668
11.
ERG Responses in Albinism, Idiopathic Infantile Nystagmus, and Controls.
Invest Ophthalmol Vis Sci
; 65(4): 11, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573619
12.
Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.
Ophthalmology
; 120(12): 2714-2724, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24161406
13.
Diagnostic potential of iris cross-sectional imaging in albinism using optical coherence tomography.
Ophthalmology
; 120(10): 2082-90, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23725737
14.
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Br J Ophthalmol
; 107(8): 1202-1208, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379600
15.
Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood.
Am J Ophthalmol
; 245: 202-211, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084688
16.
Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.
Invest Ophthalmol Vis Sci
; 63(9): 6, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35930270
17.
The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography.
Ophthalmology
; 118(8): 1645-52, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21570122
18.
Cerebral malaria: insight into pathology from optical coherence tomography.
Sci Rep
; 11(1): 15722, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344903
19.
Discordant phenotypes in twins with infantile nystagmus.
Sci Rep
; 11(1): 2826, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531592
20.
Retinal Development in Infants and Young Children with Achromatopsia.
Ophthalmology
; 122(10): 2145-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972256