Associated Papers
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.
Fioretti T et al.
Genes, 2021
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
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
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2019
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Torriano S et al.
Human Molecular Genetics, 2017
Clinical utility gene card for: choroideremia.
Moosajee M et al.
European Journal of Human Genetics : Ejhg, 2014
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
Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.
Mitsios A et al.
Therapeutic Advances in Ophthalmology, 0
Select a paper to view details