Detalhe da pesquisa
1.
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Am J Med Genet C Semin Med Genet
; 184(3): 728-752, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32865313
2.
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.
Mol Vis
; 24: 546-559, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30093795
3.
New mutations in the GLA gene in Brazilian families with Fabry disease.
J Hum Genet
; 57(6): 347-51, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22551898
4.
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.
Ophthalmic Genet
; 43(1): 110-115, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34425733
5.
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Ophthalmic Genet
; 42(5): 553-560, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34157943
6.
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
Genes (Basel)
; 12(5)2021 05 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34068831
7.
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Sci Rep
; 10(1): 1603, 2020 01 31.
Artigo
Inglês
| MEDLINE | ID: mdl-32005865
8.
Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.
Invest Ophthalmol Vis Sci
; 61(2): 38, 2020 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32097478
9.
TUBGCP4 - associated microcephaly and chorioretinopathy.
Ophthalmic Genet
; 41(2): 189-193, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32270730
10.
Retinal dystrophies and variants in PRPH2.
Arq Bras Oftalmol
; 82(2): 158-160, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30726412
11.
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Front Genet
; 10: 1383, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-32256517
12.
Relative frequency of inherited retinal dystrophies in Brazil.
Sci Rep
; 8(1): 15939, 2018 10 29.
Artigo
Inglês
| MEDLINE | ID: mdl-30374144
13.
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report.
Arq Bras Oftalmol
; 81(5): 437-439, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30208148
14.
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Sci Rep
; 7(1): 8654, 2017 08 17.
Artigo
Inglês
| MEDLINE | ID: mdl-28819299
15.
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
Invest Ophthalmol Vis Sci
; 58(13): 5723-5730, 2017 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29114839
16.
PROM1 gene variations in Brazilian patients with macular dystrophy.
Ophthalmic Genet
; 38(1): 39-42, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28095140
17.
Novel GAA mutations in patients with Pompe disease.
Gene
; 561(1): 124-31, 2015 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-25681614
18.
Retinal dystrophies and variants in PRPH2 / Distrofias retinianas e variantes em PRPH2
Arq. bras. oftalmol
; 82(2): 158-160, Mar.-Apr. 2019. graf
Artigo
Inglês
| LILACS | ID: biblio-989393
19.
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report / Síndrome de esfoliação associada a polimorfismos do gene LOXL1 em paciente negro da América Latina: relato de caso
Arq. bras. oftalmol
; 81(5): 437-439, Sept.-Oct. 2018. graf
Artigo
Inglês
| LILACS | ID: biblio-950492
20.
Kinin B1 receptor in adipocytes regulates glucose tolerance and predisposition to obesity.
PLoS One
; 7(9): e44782, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23024762