Detalhe da pesquisa
1.
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
J Med Genet
; 59(1): 65-74, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006618
2.
Virtual visits at the Helsinki Head and Neck Center during the COVID-19 pandemic: patient safety incidents and the experiences of patients and staff.
BMC Health Serv Res
; 23(1): 483, 2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173703
3.
Foveal thickness and its association with visual acuity in adults born preterm with very low birth weight: A two-country birth cohort study.
Acta Ophthalmol
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38809004
4.
Visual function in adults born preterm with very low birth weight-A two-country birth cohort study.
Acta Ophthalmol
; 102(1): 49-57, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37172142
5.
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Acta Ophthalmol
; 101(2): 215-221, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128853
6.
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Acta Ophthalmol
; 101(7): 797-806, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37032519
7.
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.
Am J Ophthalmol
; 249: 99-107, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543315
8.
Anterior segment optical coherence tomography in congenital corneal opacities.
Ophthalmology
; 119(12): 2450-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959105
9.
Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Ophthalmic Res
; 48(2): 75-81, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473002
10.
Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.
Am J Ophthalmol
; 236: 309-318, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740632
11.
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Am J Ophthalmol
; 241: 9-27, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469785
12.
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.
Ophthalmology
; 123(7): 1624-6, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26875006
13.
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3.
Am J Ophthalmol
; 213: 217-225, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059980
14.
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
Am J Ophthalmol
; 188: 41-50, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29366613
15.
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
Invest Ophthalmol Vis Sci
; 58(1): 502-516, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125838
16.
Childhood-onset Leber hereditary optic neuropathy.
Br J Ophthalmol
; 101(11): 1505-1509, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314831
17.
Indications and outcomes of keratoplasties in children during a 40-year period.
Acta Ophthalmol
; 94(6): 618-24, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061670
18.
Potential Effect of Tumor Necrosis Factor Inhibitors on Trabeculectomy With Mitomycin C for Patients With Juvenile Idiopathic Arthritis-Related Uveitic Glaucoma: A Retrospective Analysis.
JAMA Ophthalmol
; 133(11): 1323-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402863
19.
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
Eur J Hum Genet
; 27(3): 494-502, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143805
20.
Anterior segment optical coherence tomography in autosomal recessive cornea plana.
Acta Ophthalmol
; 93(3): e232-3, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113580