Detalhe da pesquisa
1.
Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
Klin Monbl Augenheilkd
; 240(10): 1158-1173, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714190
2.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457110
3.
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Hum Mutat
; 40(6): 675-693, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830990
4.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
5.
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Hum Mol Genet
; 26(21): 4203-4214, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088427
6.
Analysis of Inherited Optic Neuropathies.
Klin Monbl Augenheilkd
; 236(4): 451-461, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30831606
7.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
8.
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Hum Mol Genet
; 23(20): 5527-35, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24895405
9.
JNK Inhibition Reduced Retinal Ganglion Cell Death after Ischemia/Reperfusion In Vivo and after Hypoxia In Vitro.
Adv Exp Med Biol
; 854: 677-83, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427475
10.
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
Hum Mutat
; 36(6): 599-610, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703721
11.
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Hum Mol Genet
; 22(16): 3250-8, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23591992
12.
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
Hum Mol Genet
; 22(16): 3218-26, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23578822
13.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325361
14.
Tgfbi/Bigh3 silencing activates ERK in mouse retina.
Exp Eye Res
; 140: 159-170, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387839
15.
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Hum Mutat
; 35(8): 949-53, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777706
16.
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
Am J Hum Genet
; 88(1): 92-8, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21194680
17.
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Am J Hum Genet
; 88(3): 382-90, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21397065
18.
Autophagy induction does not protect retina against apoptosis in ischemia/reperfusion model.
Adv Exp Med Biol
; 801: 677-83, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664758
19.
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.
Adv Exp Med Biol
; 801: 171-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664695
20.
Identification of HMX1 target genes: a predictive promoter model approach.
Mol Vis
; 19: 1779-94, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946633