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Eight previously unidentified mutations found in the OA1 ocular albinism geneRetinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomographyStructural abnormalities of the cornea and lid resulting from collagen V mutationsCRYBA4, a novel human cataract gene, is also involved in microphthalmiaDigenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsAn essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegansMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaMutational analysis of the OA1 gene in ocular albinismDomain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaAdult-onset primary open-angle glaucoma caused by mutations in optineurinCRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotypeCRYBB1 mutation associated with congenital cataract and microcorneaExome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisHuman cone photoreceptor dependence on RPE65 isomeraseGene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Management and outcome of unilateral retinoblastoma.Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.Periocular topotecan for intraocular retinoblastoma.VSX1: a gene for posterior polymorphous dystrophy and keratoconus.Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.Detection of optic nerve disease in retinoblastoma by use of spectral domain optical coherence tomography.Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations.Improvement and decline in vision with gene therapy in childhood blindness.Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram"Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.Predilection of retinoblastoma metastases for the mandible.RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old.Hypersensitivity to sub-Tenon's topotecan in fibrin adhesive in patients with retinoblastoma.A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.
P50
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P50
name
Elise Héon
@en
type
label
Elise Héon
@en
prefLabel
Elise Héon
@en