Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients.
J Pathol
; 257(3): 327-339, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35254670
3.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
4.
Metastatic Death Based on Presenting Features and Treatment for Advanced Intraocular Retinoblastoma: A Multicenter Registry-Based Study.
Ophthalmology
; 129(8): 933-945, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35500608
5.
High-risk Pathologic Features Based on Presenting Findings in Advanced Intraocular Retinoblastoma: A Multicenter, International Data-Sharing American Joint Committee on Cancer Study.
Ophthalmology
; 129(8): 923-932, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35436535
6.
Angioid streaks and obstructive sleep apnea syndrome: are they related?
Sleep Breath
; 25(1): 163-169, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32301031
7.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
8.
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Am J Med Genet A
; 173(8): 2268-2274, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28599093
9.
Bilateral choroidal osteoma: long-term follow-up of secondary choroidal neovascularization in a child using antiangiogenic therapy.
J AAPOS
; 28(2): 103869, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38460597
10.
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Front Genet
; 15: 1352063, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450199
11.
Spontaneous Regression of Choroidal Neovascularization in a Girl with Rubella Retinopathy.
Ocul Immunol Inflamm
; 31(10): 2069-2071, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437297
12.
Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients.
J Pathol Clin Res
; 9(1): 32-43, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148636
13.
Retinoblastoma seeds: impact on American Joint Committee on Cancer clinical staging.
Br J Ophthalmol
; 107(1): 127-132, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340974
14.
Patients presenting with metastases: stage IV uveal melanoma, an international study.
Br J Ophthalmol
; 106(4): 510-517, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452185
15.
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Nat Commun
; 12(1): 5578, 2021 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34552068
16.
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.
Br J Ophthalmol
; 105(10): 1435-1443, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933936
17.
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
Eur J Med Genet
; 63(12): 104073, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33002628
18.
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Eye (Lond)
; 34(3): 499-506, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31320737
19.
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Genes (Basel)
; 11(4)2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244552
20.
Therapeutic targeting of the RB1 pathway in retinoblastoma with the oncolytic adenovirus VCN-01.
Sci Transl Med
; 11(476)2019 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674657