Detalhe da pesquisa
1.
Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency.
Doc Ophthalmol
; 146(2): 173-180, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602670
2.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916082
3.
Rod bipolar cell dysfunction in POLG retinopathy.
Doc Ophthalmol
; 142(1): 111-118, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567010
4.
Unique retinal signaling defect in GNB5-related disease.
Doc Ophthalmol
; 140(3): 273-277, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720979
5.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Am J Hum Genet
; 98(5): 1011-1019, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063057
6.
Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data.
Doc Ophthalmol
; 137(3): 169-181, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30357588
7.
Attentional demands modulate sensorimotor learning induced by persistent exposure to changes in auditory feedback.
J Neurophysiol
; 115(2): 826-32, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26655821
8.
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Invest Ophthalmol Vis Sci
; 65(5): 22, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743414
9.
Retinal Phenotyping of a Murine Model of Lafora Disease.
Genes (Basel)
; 14(4)2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107612
10.
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
Eye (Lond)
; 37(18): 3734-3742, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225827
11.
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.
J AAPOS
; 26(4): 202-205, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872165
12.
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
J Neurol
; 269(7): 3597-3604, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184210
13.
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Genes (Basel)
; 12(3)2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33668843
14.
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Genes (Basel)
; 12(9)2021 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573334
15.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Invest Ophthalmol Vis Sci
; 62(15): 26, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34940782
16.
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Ophthalmic Genet
; 41(5): 457-464, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32689861
17.
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Invest Ophthalmol Vis Sci
; 61(10): 36, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32881472
18.
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Invest Ophthalmol Vis Sci
; 57(6): 2637-46, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27258436
19.
Attentional demands influence vocal compensations to pitch errors heard in auditory feedback.
PLoS One
; 9(10): e109968, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25303649
20.
Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".
Neurology
; 91(3): 137-139, 2018 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907606