Detalhe da pesquisa
1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
2.
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
3.
Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy.
J Immunol
; 202(4): 1057-1068, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635390
4.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
5.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Hum Genet
; 137(6-7): 447-458, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978320
6.
Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder.
Adv Exp Med Biol
; 1074: 193-201, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721944
7.
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 1074: 237-245, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721949
8.
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.
Adv Exp Med Biol
; 1074: 229-236, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721948
9.
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Physiol Genomics
; 49(4): 216-229, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130426
10.
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
Ophthalmology
; 124(4): 456-463, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187978
11.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Physiol Genomics
; 48(12): 922-927, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27764769
12.
Sudden acquired retinal degeneration syndrome (SARDS) - a review and proposed strategies toward a better understanding of pathogenesis, early diagnosis, and therapy.
Vet Ophthalmol
; 19(4): 319-31, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096588
13.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Hum Genet
; 133(3): 331-45, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154662
14.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet
; 50(10): 674-88, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847139
15.
The ophthalmic experience: unanticipated primary findings in the era of next generation sequencing.
J Genet Couns
; 23(4): 588-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24399093
16.
Digital quantification of Goldmann visual fields (GVFs) as a means for genotype-phenotype comparisons and detection of progression in retinal degenerations.
Adv Exp Med Biol
; 801: 131-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664690
17.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946133
18.
E2-2 protein and Fuchs's corneal dystrophy.
N Engl J Med
; 363(11): 1016-24, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20825314
19.
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Mol Vis
; 19: 2407-17, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319334
20.
Effective gene therapy with nonintegrating lentiviral vectors.
Nat Med
; 12(3): 348-53, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16491086