Detalhe da pesquisa
1.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Genet Epidemiol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634654
2.
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery.
Hum Genet
; 142(7): 927-947, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191732
3.
The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.
Hum Mol Genet
; 29(12): 2076-2097, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32420594
4.
Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
Oral Dis
; 28(7): 1921-1935, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061439
5.
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Dev Biol
; 458(2): 246-256, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765609
6.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Am J Hum Genet
; 102(6): 1143-1157, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805042
7.
The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development.
PLoS Genet
; 14(3): e1007278, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565969
8.
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
Genet Epidemiol
; 43(6): 704-716, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172578
9.
MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract.
Hum Genet
; 139(2): 151-184, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31797049
10.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
J Med Genet
; 56(9): 629-638, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129566
11.
iSyTE 2.0: a database for expression-based gene discovery in the eye.
Nucleic Acids Res
; 46(D1): D875-D885, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036527
12.
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Hum Mutat
; 40(10): 1813-1825, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215115
13.
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses.
Hum Genet
; 138(11-12): 1391-1407, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691004
14.
Prox1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expression.
Development
; 143(2): 318-28, 2016 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657765
15.
Molecular characterization of the human lens epithelium-derived cell line SRA01/04.
Exp Eye Res
; 188: 107787, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479653
16.
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Hum Mutat
; 39(4): 471-494, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314435
17.
N-myc regulates growth and fiber cell differentiation in lens development.
Dev Biol
; 429(1): 105-117, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28716713
18.
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.
Hum Genet
; 137(11-12): 941-954, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417254
19.
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.
Exp Eye Res
; 168: 161-170, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305299
20.
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Hum Genet
; 136(2): 205-225, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27878435