Associated Papers
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
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
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C et al.
Human Mutation, 2021
Choroidal Vascularity Index in CHM Carriers.
Mucciolo DP et al.
Frontiers in Ophthalmology, 2021
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
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2018
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Novel CHM mutations identified in Chinese families with Choroideremia.
Cai XB 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
Genetic analysis of choroideremia families in the Australian population.
McLaren TL et al.
Clinical & Experimental Ophthalmology, 2015