Associated Papers
Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.
Choi HS et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2025
Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells.
Fonseca AF et al.
Stem Cells and Development, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.
Wynne N et al.
Retina (philadelphia, Pa.), 2024
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Clinical and genetic findings in a Chinese cohort with choroideremia.
Song Y et al.
Eye (london, England), 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
Cunha DL et al.
Jci Insight, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
Han X et al.
Retina (philadelphia, Pa.), 2020
Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network.
Morgan JIW et al.
Translational Vision Science & Technology, 2020
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
McLaren TL et al.
Human Genome Variation, 2020
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
Sarkar H et al.
Human Molecular Genetics, 2019
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2019
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Visual Function and Central Retinal Structure in Choroideremia.
Heon E et al.
Investigative Ophthalmology & Visual Science, 2016
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
Freund PR et al.
Molecular Genetics & Genomic Medicine, 2016
Genetic analysis of choroideremia families in the Australian population.
McLaren TL et al.
Clinical & Experimental Ophthalmology, 2015
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.
Perez-Cano HJ et al.
American Journal of Medical Genetics. Part A, 2009
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Renner AB et al.
Ophthalmology, 2006
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
van den Hurk JA et al.
Human Genetics, 2003
Mutational analysis of patients with the diagnosis of choroideremia.
McTaggart KE et al.
Human Mutation, 2002
REP-1 gene mutations in Japanese patients with choroideremia.
Fujiki K et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 1999
Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
Hayakawa M et al.
Ophthalmic Genetics, 1999
A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
Iino Y et al.
Japanese Journal of Ophthalmology, 0
Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia.
Shimizu K et al.
Case Reports in Ophthalmology, 0
Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.
Mitsios A et al.
Therapeutic Advances in Ophthalmology, 0