Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
2.
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Ophthalmic Res
; 67(1): 172-182, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160664
3.
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.
Int J Mol Sci
; 22(17)2021 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502238
4.
Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.
Klin Monbl Augenheilkd
; 236(4): 562-567, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30646425
5.
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
6.
Correction: Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.
Klin Monbl Augenheilkd
; 2019 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30769346
7.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Case Rep Ophthalmol
; 15(1): 230-237, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500542
8.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
9.
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
Hum Mol Genet
; 18(12): 2099-114, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19299492
10.
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
Front Cell Dev Biol
; 9: 625560, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634125
11.
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Invest Ophthalmol Vis Sci
; 61(4): 47, 2020 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347917
12.
Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy.
Invest Ophthalmol Vis Sci
; 57(15): 6714-6721, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27951593
13.
Primary choroidal melanoma in phakomatosis pigmentovascularis IIa.
Ophthalmology
; 112(7): 1232-5, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15939474
14.
Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
Ophthalmol Retina
; 4(10): 1023, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33019987
15.
High-frequency ultrasonographic evaluation of conjunctival intraepithelial neoplasia and squamous cell carcinoma.
Arch Ophthalmol
; 121(2): 168-72, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12583781
16.
Angle closure: classification, concepts, and the role of ultrasound biomicroscopy in diagnosis and treatment.
Semin Ophthalmol
; 17(2): 69-78, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15513459
17.
Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.
Ophthalmic Genet
; 33(1): 6-11, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22103627
18.
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PLoS One
; 7(3): e32330, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22412862
19.
Comparing deep sclerectomy with collagen implant to the new method of very deep sclerectomy with collagen implant: a single-masked randomized controlled trial.
J Glaucoma
; 19(1): 24-30, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373103
20.
Bilateral circumscribed choroidal hemangioma in an otherwise healthy individual.
Retin Cases Brief Rep
; 1(3): 149-52, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390780