Associated Papers
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
FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.
Wynne N et al.
Retina (philadelphia, Pa.), 2024
Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.
DeLuca AP et al.
Ophthalmology Science, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 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
Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.
Parmann R et al.
Investigative Ophthalmology & Visual Science, 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
CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
Han X et al.
Retina (philadelphia, Pa.), 2020
Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
Gao FJ et al.
Bmc Ophthalmology, 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
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.
Paavo M et al.
Investigative Ophthalmology & Visual Science, 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
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
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
Genetic analysis of choroideremia families in the Australian population.
McLaren TL et al.
Clinical & Experimental Ophthalmology, 2015
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
Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination.
Genead MA et al.
Eye (london, England), 2011
The functional effect of pathogenic mutations in Rab escort protein 1.
Sergeev YV et al.
Mutation Research, 2009
De novo mutation in a choroideremia carrier.
Bozbeyoglu S et al.
Retinal Cases & Brief Reports, 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
A practical diagnostic test for choroideremia.
MacDonald IM et al.
Ophthalmology, 1998
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
van den Hurk JA et al.
Human Mutation, 1997