Detalhe da pesquisa
1.
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.
Lab Invest
; 103(8): 100160, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088464
2.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
; 130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934205
3.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693420
4.
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
Mol Vis
; 28: 48-56, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693422
5.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
6.
Defects in the Cell Signaling Mediator ß-Catenin Cause the Retinal Vascular Condition FEVR.
Am J Hum Genet
; 100(6): 960-968, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575650
7.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
8.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
9.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
10.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
11.
Matrix metalloproteinases in keratoconus - Too much of a good thing?
Exp Eye Res
; 182: 137-143, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910610
12.
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
13.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Am J Hum Genet
; 96(6): 948-54, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983245
15.
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
Retina
; 38(3): 620-628, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28234808
16.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Am J Hum Genet
; 93(6): 1143-50, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290379
17.
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Am J Med Genet A
; 170(7): 1826-31, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148795
18.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Proc Natl Acad Sci U S A
; 110(24): 9856-61, 2013 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716654
19.
A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.
Hum Genet
; 134(7): 705-15, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893795
20.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Mol Vis
; 21: 236-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802487