Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
3.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
4.
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.
Mol Med
; 30(1): 47, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594640
5.
Important role of endocannabinoid signaling in the development of functional vision and locomotion in zebrafish.
FASEB J
; 30(12): 4275-4288, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27623930
6.
Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.
Front Mol Neurosci
; 15: 855786, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36034498
7.
A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.
Sci Rep
; 12(1): 22597, 2022 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585409
8.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Nat Commun
; 13(1): 6841, 2022 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369169
9.
In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale.
Front Cell Dev Biol
; 9: 642235, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34124035
10.
Onecut Regulates Core Components of the Molecular Machinery for Neurotransmission in Photoreceptor Differentiation.
Front Cell Dev Biol
; 9: 602450, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33816460
11.
Effects of low-dose methylcyclopentadienyl manganese tricarbonyl-derived manganese on the development of diencephalic dopaminergic neurons in zebrafish.
Environ Pollut
; 287: 117151, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020261
12.
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
J Med Chem
; 64(21): 15973-15990, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714648
13.
Characterization of paralogous uncx transcription factor encoding genes in zebrafish.
Gene X
; 2: 100011, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31193955
14.
Characterization of paralogous uncx transcription factor encoding genes in zebrafish.
Gene
; 721S: 100011, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530988