about
sameAs
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyDisease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeA family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 geneGlaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressureBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesBardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia functionCalpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degenerationBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeBBS mutations modify phenotypic expression of CEP290-related ciliopathiesQRX, a novel homeobox gene, modulates photoreceptor gene expressionExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaThe nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationComparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneA novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Visual impairment in the absence of dystroglycanCharacterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usageConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformEvaluation of optineurin sequence variations in 1,048 patients with open-angle glaucomaCrumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationGenetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from BrazilIdentification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mappingCRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosisThree autosomal dominant corneal dystrophies map to chromosome 5qLeber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureMutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degenerationAge-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialDe novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisButterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS genePolymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian populationMissense variations in the fibulin 5 gene and age-related macular degenerationLinkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisBbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Edwin M Stone
@es
Edwin M Stone
@nl
Edwin M Stone
@sl
Edwin M. Stone
@en
type
label
Edwin M Stone
@es
Edwin M Stone
@nl
Edwin M Stone
@sl
Edwin M. Stone
@en
prefLabel
Edwin M Stone
@es
Edwin M Stone
@nl
Edwin M Stone
@sl
Edwin M. Stone
@en
P106
P1153
7202379334
P21
P31
P496
0000-0003-3343-4414