Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M et al.
American Journal of Ophthalmology, 2021
33309813 (PubMed )
Supplement: mmc1.pdf
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC et al.
Ophthalmic Genetics, 2020
32441199 (PubMed )
Supplement: IOPG_A_1766087_SM2520.pdf
High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
Sergouniotis PI et al.
The British Journal of Ophthalmology, 2012
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Robson AG et al.
Retina (philadelphia, Pa.), 2010
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Thiagalingam S et al.
Ophthalmic Genetics, 2007
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H et al.
American Journal of Human Genetics, 2006
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