about
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessMutations in the RNA granule component TDRD7 cause cataract and glaucomaBBS mutations modify phenotypic expression of CEP290-related ciliopathiesGenotype-phenotype analysis of the branchio-oculo-facial syndromeEctopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceButterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS geneAvoidance and treatment of retinopathy of prematurity.Refractive surgery for unilateral high myopia in children.Anterior hyaloid face opacification after pediatric Nd:YAG laser capsulotomy.Refractive surgery in children.The clinical evaluation of infantile nystagmus: What to do first and why.From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Which Leber congenital amaurosis patients are eligible for gene therapy trials?Ophthalmologic complications in children with chronic hepatitis C treated with pegylated interferonCadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathyTranscriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-SeqVitritis in pediatric genetic retinal disordersTRIP8b is required for maximal expression of HCN1 in the mouse retinaComplement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.Improved ocular alignment with adjustable sutures in adults undergoing strabismus surgery.TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.Longitudinal changes in the refractive errors of children with tears in Descemet's membrane following forceps injuries.Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.Ophthalmic manifestations of Danon disease.Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus.Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.Is age-related macular degeneration a microvascular disease?Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases.Gene Therapy for Blinding Pediatric Eye Disorders.Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal DegenerationCEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.Induction of maturation of human B-cell lymphomas in vitro. Morphologic changes in relation to immunoglobulin and DNA synthesis.What I learned from Irene Hussels Maumenee.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Arlene Drack
@ast
Arlene Drack
@en
Arlene Drack
@es
Arlene Drack
@nl
type
label
Arlene Drack
@ast
Arlene Drack
@en
Arlene Drack
@es
Arlene Drack
@nl
prefLabel
Arlene Drack
@ast
Arlene Drack
@en
Arlene Drack
@es
Arlene Drack
@nl
P106
P31
P496
0000-0002-8195-8426