Associated Papers
Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.
Yang X et al.
Science China. Life Sciences, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.
Kumar A et al.
American Journal of Ophthalmology Case Reports, 2025
Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.
Xu Y et al.
Investigative Ophthalmology & Visual Science, 2024
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
Li Q et al.
The British Journal of Ophthalmology, 2024
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Wang J et al.
Signal Transduction and Targeted Therapy, 2024
Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.
Cheloni R et al.
Eye (london, England), 2024
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Li H et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
Ha TT et al.
Genes, 2023
OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.
Wang Y et al.
Retina (philadelphia, Pa.), 2023
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Hanany M et al.
Translational Vision Science & Technology, 2023
Corrigendum to "comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa" [EBioMedicine 56(2020)102792] DOI: https://doi.org/10.1016/j.ebiom.2020.102792.
Yi Z et al.
Ebiomedicine, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 2021
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
Yi Z et al.
Ebiomedicine, 2020
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y et al.
Molecular Genetics & Genomic Medicine, 2020
Autofluorescence of choroidal vessels in Bietti's crystalline dystrophy.
Ameri H et al.
Bmj Open Ophthalmology, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.
Darki F et al.
Journal of Current Ophthalmology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.
Meng XH et al.
Molecular Vision, 2019
Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.
García-García GP et al.
Acta Ophthalmologica, 2018
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
Jiao X et al.
European Journal of Human Genetics : Ejhg, 2017
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Yin X et al.
Experimental Eye Research, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Halford S et al.
Ophthalmology, 2014
Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.
Yin H et al.
Plos One, 2014
Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
Meng XH et al.
Molecular Vision, 2014
A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
Song Y et al.
International Ophthalmology, 2013
[Crystalline deposits in the retina].
Rosbach J et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2013
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Chen X et al.
Investigative Ophthalmology & Visual Science, 2013
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
Xiao X et al.
Biochemical and Biophysical Research Communications, 2011
Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
Jin ZB et al.
Japanese Journal of Ophthalmology, 0