about
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneMutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.An investigation into FOXE1 polyalanine tract length in premature ovarian failure.Alström syndrome--an uncommon cause of early childhood retinal dystrophyAbusive head trauma and accidental head injury: a 20-year comparative study of referrals to a hospital child protection teamHeterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Retinal haemorrhages in inflicted traumatic brain injury: the ophthalmologist in court.Efficacy of wide-field digital retinal imaging for retinopathy of prematurity screening.Patterns of structural head injury in children younger than 3 years: a ten-year review of 519 patients.Insights into keratoconus from a genetic perspective.Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.Progression of diabetic retinopathy after bariatric surgery.Role of genetic testing in retinoblastoma management at a tertiary referral centre.Generating mouse models of retinal disease using ENU mutagenesis.Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.Retinal haemorrhages in a child struck by a barbell.ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.A simple technique to minimize conjunctival haemorrhage following sub-Tenon's block.Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.Searching for modifier genes.TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patientsHeavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal DystrophyImpaired Complex-I-Linked Respiration and ATP Synthesis in Primary Open-Angle Glaucoma Patient LymphoblastsMolecular characterization and clinical differentiation: a symbiotic relationshipComputerized corneal topography in a paediatric population with Down syndromeDrug-induced optic neuropathy-TB or not TBRoads untraveledUtility and efficacy of TGFBI mutational analysis for disease detectionClinical findings and molecular diagnosis of retinoblastoma in older childrenA novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosaDiabetic eye disease and screening attendance by ethnicity in New Zealand: A systematic reviewAlbinism and a mitochondrial DNA deletionMultitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progressionConcordance of congenital ptosis in monozygotic twinsSenior-Løken syndrome and intracranial hypertension
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Andrea L Vincent
@nl
Andrea L Vincent
@sl
Andrea L. Vincent
@en
Andrea L. Vincent
@es
type
label
Andrea L Vincent
@nl
Andrea L Vincent
@sl
Andrea L. Vincent
@en
Andrea L. Vincent
@es
prefLabel
Andrea L Vincent
@nl
Andrea L Vincent
@sl
Andrea L. Vincent
@en
Andrea L. Vincent
@es
P1053
A-5389-2013
P106
P1153
56780967900
7201634556
P31
P3829
P496
0000-0002-4185-3267