Detalhe da pesquisa
1.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
2.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
3.
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Int J Mol Sci
; 21(22)2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33182541
4.
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Int J Mol Sci
; 21(5)2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111077
5.
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
6.
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Hum Mol Genet
; 26(1): 133-144, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025326
7.
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Proc Natl Acad Sci U S A
; 112(20): E2630-9, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25941382
8.
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Sci Rep
; 6: 36208, 2016 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27812022
9.
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PLoS One
; 11(1): e0145951, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26766544
10.
Quantitative Analysis of Fundus-Image Sequences Reveals Phase of Spontaneous Venous Pulsations.
Transl Vis Sci Technol
; 4(5): 3, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26396929
11.
Photophobia in a blind eye after removal of a progressive orbital optic glioma with denervation.
J Neurol Sci
; 358(1-2): 522-4, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26474792