Detalhe da pesquisa
1.
Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
Hum Mol Genet
; 28(5): 804-817, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445545
2.
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
BMC Ophthalmol
; 21(1): 168, 2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836713
3.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
; 33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334266
4.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Mol Vis
; 24: 603-612, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210231
5.
The hypothalamic photoreceptors regulating seasonal reproduction in birds: a prime role for VA opsin.
Front Neuroendocrinol
; 37: 13-28, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25448788
6.
Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease.
Exp Eye Res
; 132: 161-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25579607
7.
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Ophthalmology
; 121(6): 1174-84, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24480711
8.
Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.
Vision (Basel)
; 7(1)2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977298
9.
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372373
10.
Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response.
Biol Lett
; 8(2): 291-4, 2012 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22031722
11.
Functional diversity of melanopsins and their global expression in the teleost retina.
Cell Mol Life Sci
; 68(24): 4115-32, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21833582
12.
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Ophthalmic Genet
; 43(2): 201-209, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751625
13.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Genes (Basel)
; 13(8)2022 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36011334
14.
The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.
Ther Adv Ophthalmol
; 13: 25158414211056384, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988368
15.
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Genes (Basel)
; 12(8)2021 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440414
16.
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Eye (Lond)
; 35(5): 1440-1449, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728228
17.
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina.
J Neurosci
; 29(39): 12332-42, 2009 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19793992
18.
Author reply: To PMID 24480711.
Ophthalmology
; 122(4): e22, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25797088
19.
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Genes (Basel)
; 11(11)2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33138239
20.
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
JAMA Ophthalmol
; 138(5): 544-551, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32239196