Detalhe da pesquisa
1.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35332618
2.
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 1074: 237-245, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29721949
3.
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Hum Mutat
; 38(6): 704-715, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28271586
4.
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Mol Vis
; 23: 470-481, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28761320
5.
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
Mol Vis
; 22: 1239-1247, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27777503
6.
Unexpected Etiology in a Case of Bilateral Maculopathy.
Case Rep Ophthalmol
; 12(2): 622-628, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34326763
7.
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.
Ophthalmic Genet
; 42(1): 15-22, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33465333
8.
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Front Genet
; 12: 647400, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33737949
9.
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
Ophthalmic Genet
; 41(4): 341-344, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32441177
10.
Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).
Transl Vis Sci Technol
; 9(5): 14, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32821486
11.
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
Ophthalmol Retina
; 4(5): 510-520, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31953110
12.
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
Am J Ophthalmol
; 200: 76-84, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30582903
13.
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Invest Ophthalmol Vis Sci
; 58(5): 2774-2784, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28549094
14.
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 55(11): 7147-58, 2014 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25190649