Detalhe da pesquisa
1.
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
Genet Med
; 24(5): 1073-1084, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034853
2.
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Doc Ophthalmol
; 138(1): 55-70, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446867
3.
Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.
Stem Cell Reports
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38821055
4.
Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs.
Mol Ther Nucleic Acids
; 33: 240-253, 2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37483273
5.
Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells.
F1000Res
; 11: 324, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811797
6.
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
EBioMedicine
; 70: 103515, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34365092
7.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Stem Cell Res
; 54: 102449, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216980
8.
Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.
Stem Cell Res
; 51: 102184, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524672
9.
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.
Front Cell Neurosci
; 14: 265, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32973457
10.
Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions.
Stem Cell Res
; 49: 102113, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370878
11.
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.
Eur J Hum Genet
; 28(5): 679-690, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31896778