Associated Papers
Longitudinal Assessment of Cone Structure, Choriocapillaris, and Retinal Sensitivity in Choroideremia.
Shen LL et al.
Investigative Ophthalmology & Visual Science, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.
Wynne N et al.
Retina (philadelphia, Pa.), 2024
Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
Sarkar H et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.
DeLuca AP et al.
Ophthalmology Science, 2023
Clinical and Genetic Findings in Korean Patients with Choroideremia.
Jo WG et al.
Korean Journal of Ophthalmology : Kjo, 2023
Clinical and genetic findings in a Chinese cohort with choroideremia.
Song Y et al.
Eye (london, England), 2023
A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene.
Pongpaksupasin P et al.
Stem Cell Research, 2022
PERIPHERAL OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN A CHOROIDEREMIA CARRIER.
Corvi F et al.
Retinal Cases & Brief Reports, 2022
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
Hagag AM et al.
Eye (london, England), 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
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
McLaren TL et al.
Human Genome Variation, 2020
Cone Structure Persists Beyond Margins of Short-Wavelength Autofluorescence in Choroideremia.
Foote KG et al.
Investigative Ophthalmology & Visual Science, 2019
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.
Jauregui R et al.
American Journal of Ophthalmology, 2019
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
Sarkar H et al.
Human Molecular Genetics, 2019
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
de Castro-Miró M et al.
The British Journal of Ophthalmology, 2018
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
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R et al.
Plos One, 2016
Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
Seitz IP et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015
A clinical molecular genetic service for United Kingdom families with choroideraemia.
Ramsden SC et al.
European Journal of Medical Genetics, 2013
Choroideremia carriers maintain a normal electro-oculogram (EOG).
Yau RJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2007
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
Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.
Mitsios A et al.
Therapeutic Advances in Ophthalmology, 0