Detalhe da pesquisa
1.
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.
Lab Invest
; 103(8): 100160, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088464
2.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
; 130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934205
3.
UNITED KINGDOM DATABASE STUDY OF INTRAVITREAL DEXAMETHASONE IMPLANT (OZURDEX) FOR MACULAR EDEMA RELATED TO RETINAL VEIN OCCLUSION.
Retina
; 43(4): 679-687, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729561
4.
Associations with Non-Persistence with Intra-Vitreal Therapy for Neovascular Age-Related Macular Degeneration at 24 Months.
Ophthalmologica
; 246(2): 90-98, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746120
5.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693420
6.
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
Mol Vis
; 28: 48-56, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693422
7.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
8.
Sickle Cell Maculopathy: Prevalence, Associations and Impact on Visual Acuity.
Ophthalmologica
; 244(2): 159-164, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33120391
9.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
10.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
11.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
12.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
13.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
14.
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Ophthalmology
; 126(10): 1410-1421, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905644
15.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
16.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Am J Hum Genet
; 96(6): 948-54, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983245
17.
Characterizing Disease Burden and Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.
Ophthalmology
; 125(6): 842-849, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29366564
18.
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure.
Stem Cells
; 35(11): 2305-2320, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913923
19.
VISUAL ACUITY IMPROVEMENT WHEN SWITCHING FROM RANIBIZUMAB TO AFLIBERCEPT IS NOT SUSTAINED.
Retina
; 38(5): 951-956, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28406859
20.
Rare retinal complications of bone marrow transplantation (BMT): a case report.
BMC Ophthalmol
; 18(Suppl 1): 225, 2018 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255790