Associated Papers
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 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
Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.
Parmann R et al.
Investigative Ophthalmology & Visual Science, 2022
[Genetic diagnosis of 3 families with choroideremia].
Bai Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.
Kim JH et al.
Journal of Korean Medical Science, 2022
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
Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.
Tang H et al.
Journal of Genetics, 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
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
A Case Study of Choroideremia and Choroideremia Carrier.
Pidro A et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2019
Novel CHM mutations identified in Chinese families with Choroideremia.
Cai XB et al.
Scientific Reports, 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
Genetic analysis of choroideremia families in the Australian population.
McLaren TL et al.
Clinical & Experimental Ophthalmology, 2015
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
Li S et al.
International Journal of Molecular Medicine, 2014