Associated Papers
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
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
Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.
DeLuca AP et al.
Ophthalmology Science, 2023
Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.
Yusuf IH et al.
Cold Spring Harbor Perspectives in Medicine, 2023
Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.
Aleman TS et al.
Ophthalmology, 2022
Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.
Parmann R et al.
Investigative Ophthalmology & Visual Science, 2022
Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia.
Greig LC et al.
American Journal of Ophthalmology Case Reports, 2022
Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.
Fry LE et al.
Translational Vision Science & Technology, 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
Choroidal Vascularity Index in CHM Carriers.
Mucciolo DP et al.
Frontiers in Ophthalmology, 2021
CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
Han X et al.
Retina (philadelphia, Pa.), 2020
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
Hayashi T et al.
Scientific Reports, 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
Optical Coherence Tomography Angiography (OCT-A) in Choroideremia (CHM) carriers.
Murro V et al.
Ophthalmic Genetics, 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
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.
Jauregui R et al.
American Journal of Ophthalmology, 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
Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients.
Murro V et al.
Ophthalmic 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
Clinical and Genetic Features of Choroideremia in Childhood.
Khan KN et al.
Ophthalmology, 2016
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
Moosajee M et al.
Human Molecular Genetics, 2016
Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond.
Dimopoulos IS 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
Multimodal Imaging of Photoreceptor Structure in Choroideremia.
Sun LW 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
Choroideremia: a review of general findings and pathogenesis.
Coussa RG et al.
Ophthalmic Genetics, 2012
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
The functional effect of pathogenic mutations in Rab escort protein 1.
Sergeev YV et al.
Mutation Research, 2009
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
Choroideremia: new findings from ocular pathology and review of recent literature.
MacDonald IM et al.
Survey of Ophthalmology, 0
Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.
Delaney A et al.
Case Reports in Ophthalmology, 0