Choroideremia: a review of general findings and pathogenesis.
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High-resolution images of retinal structure in patients with choroideremia.Tuber cinereum diverticula in a 28-month-old with xq21 deletion syndrome.High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.Vector platforms for gene therapy of inherited retinopathies.AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandQuantitative optical coherence tomography angiography of vascular abnormalities in the living human eyeWhole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.Multimodal Imaging of Photoreceptor Structure in Choroideremia.Multimodal imaging in hereditary retinal diseases.Novel CHM mutations identified in Chinese families with Choroideremia.Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).The value of clinical electrophysiology in the assessment of the eye and visual system in the era of advanced imaging.Gender specific issues in hereditary ocular disorders.Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia.Genetic analysis of choroideremia families in the Australian population.Multimodal assessment of choroideremia patients defines pre-treatment characteristics.Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia.Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.Fundus autofluorescence imaging in hereditary retinal diseases.Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow.Single-base substitutions in the CHM promoter as a cause of choroideremia.A case study of choroideremia carrier - Use of multi-spectral imaging in highlighting clinical features.PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES.
P2860
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P2860
Choroideremia: a review of general findings and pathogenesis.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
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name
Choroideremia: a review of general findings and pathogenesis.
@en
Choroideremia: a review of general findings and pathogenesis.
@nl
type
label
Choroideremia: a review of general findings and pathogenesis.
@en
Choroideremia: a review of general findings and pathogenesis.
@nl
prefLabel
Choroideremia: a review of general findings and pathogenesis.
@en
Choroideremia: a review of general findings and pathogenesis.
@nl
P2860
P1433
P1476
Choroideremia: a review of general findings and pathogenesis.
@en
P2093
Elias I Traboulsi
Razek Georges Coussa
P2860
P356
10.3109/13816810.2011.620056
P577
2011-10-21T00:00:00Z