Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Ophthalmology
; 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278445
3.
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Ophthalmology
; 130(11): 1182-1190, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331482
4.
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Ophthalmology
; 130(12): 1327-1335, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37544434
5.
Artificial intelligence in retinal disease: clinical application, challenges, and future directions.
Graefes Arch Clin Exp Ophthalmol
; 261(11): 3283-3297, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160501
6.
Ophthalmic genetics in South America.
Am J Med Genet C Semin Med Genet
; 184(3): 753-761, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856789
7.
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Am J Med Genet C Semin Med Genet
; 184(3): 618-630, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32866347
8.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Am J Med Genet C Semin Med Genet
; 184(3): 631-643, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770643
9.
Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases.
Ophthalmology
; 131(2): 251-253, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848076
10.
11.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Ophthalmology
; 127(12): 1772-1774, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32434002
12.
Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
Invest Ophthalmol Vis Sci
; 65(3): 9, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466282
13.
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Invest Ophthalmol Vis Sci
; 65(2): 38, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411969
14.
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Prog Retin Eye Res
; 100: 101244, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278208
15.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Ophthalmol Retina
; 8(2): 163-173, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714431
16.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Ophthalmol Retina
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219857
17.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med
; 16(1): 7, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184646
18.
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Br J Ophthalmol
; 107(9): 1223-1230, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038193
19.
Multimodal evaluation of osteosarcoma choroidal metastasis.
Eur J Ophthalmol
; 33(5): NP137-NP139, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062609
20.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Am J Ophthalmol
; 246: 107-121, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36099972