Detalhe da pesquisa
1.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203883
2.
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Retina
; 39(5): 867-878, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29370033
3.
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Int J Mol Sci
; 20(19)2019 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31574917
4.
MERTK mutation update in inherited retinal diseases.
Hum Mutat
; 39(7): 887-913, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659094
5.
Intravitreal dexamethasone implant (Ozurdex) for macular edema secondary to retinitis pigmentosa.
Graefes Arch Clin Exp Ophthalmol
; 251(6): 1501-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23275039
6.
Non-vasogenic cystoid maculopathies.
Prog Retin Eye Res
; 91: 101092, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927124
7.
Sickle Cell Maculopathy: Microstructural Analysis Using OCTA and Identification of Genetic, Systemic, and Biological Risk Factors.
Am J Ophthalmol
; 224: 7-17, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33412123
8.
Partial recovery of visual function in a blind patient after optogenetic therapy.
Nat Med
; 27(7): 1223-1229, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031601
9.
Size and vitreomacular attachment of primary full-thickness macular holes.
Br J Ophthalmol
; 101(7): 951-954, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27913441
10.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet J Rare Dis
; 10: 85, 2015 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26103963
11.
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
Biomed Res Int
; 2015: 485624, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692139
12.
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
Ophthalmic Genet
; 35(4): 229-34, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113442