Associated Papers
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 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
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
Clinical and Genetic Findings in Korean Patients with Choroideremia.
Jo WG et al.
Korean Journal of Ophthalmology : Kjo, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.
Fry LE et al.
Translational Vision Science & Technology, 2021
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
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
Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.
Tang H et al.
Journal of Genetics, 2021
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
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia.
Yang L et al.
The Application of Clinical Genetics, 2018
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
Zhu L et al.
Molecular Medicine Reports, 2017
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 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 clinical molecular genetic service for United Kingdom families with choroideraemia.
Ramsden SC et al.
European Journal of Medical Genetics, 2013
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G et al.
Human Mutation, 2011
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
No missense mutation in choroideremia patients analyzed to date.
Beaufrère L et al.
Ophthalmic Genetics, 1999
Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
Hayakawa M et al.
Ophthalmic Genetics, 1999
The protein truncation test (PTT) as a method of detection for choroideremia mutations.
Beaufrère L et al.
Experimental Eye Research, 1997
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
van den Hurk JA et al.
Human Mutation, 1997
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