Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38471765
2.
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Int J Mol Sci
; 24(8)2023 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37108642
3.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34624300
4.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
; 129(6): 708-718, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35157951
5.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Retina
; 41(1): 213-223, 2021 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32301896
6.
Effects of DTL electrode position on the amplitude and implicit time of the electroretinogram.
Doc Ophthalmol
; 140(3): 201-209, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31686287
7.
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Retina
; 40(9): 1812-1828, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32032261
8.
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Retina
; 39(6): 1186-1199, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29528978
9.
In childhood, a different electrode placement improves the recording of pattern reversal visual evoked potentials.
J Physiol
; 601(10): 1703-1704, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36869731
10.
The Phenotypic Spectrum of Albinism.
Ophthalmology
; 125(12): 1953-1960, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30098354
11.
Timing of cognitive decline in CLN3 disease.
J Inherit Metab Dis
; 41(2): 257-261, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29392585
12.
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Ophthalmology
; 124(6): 884-895, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28341475
13.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Am J Hum Genet
; 93(6): 1143-50, 2013 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24290379
14.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Am J Hum Genet
; 91(3): 527-32, 2012 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22901948
15.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Mol Vis
; 20: 753-9, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24940029
16.
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
Am J Ophthalmol Case Rep
; 34: 102070, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38756953
17.
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
Genes (Basel)
; 15(5)2024 04 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38790159
18.
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Ophthalmol Retina
; 8(6): 600-606, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38104928
19.
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.
Mol Vis
; 19: 2165-72, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24194637
20.
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Ophthalmology
; 120(10): 2072-81, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23714322