Disease: Snowflake vitreoretinal degeneration
- A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)
- A novel phenotype associated with the R162W variant in the <em>KCNJ13</em> gene
- Altered phosphatidylinositol regulation of mutant inwardly rectifying K<sup>+</sup> Kir7.1 channels associated with inherited retinal degeneration disease
- Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation
- Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy
- Clinical features of the congenital vitreoretinopathies
- Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene
- Degenerative lesions of the peripheral retina
- Focus on Kir7.1: physiology and channelopathy
- Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36
- Hereditary snowflake vitreoretinal degeneration
- Knobloch syndrome in a patient from Chile
- Lattice degeneration of the peripheral retina: ultrastructural study
- Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish
- Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration
- Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
- Phenotypic expansion of <em>KCNJ13-</em>associated snowflake vitreoretinal degeneration
- Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration
- Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report
- Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
- Snowflake degeneration in hereditary vitreoretinal degeneration
- Snowflake degeneration of the retina
- Snowflake degeneration: an independent entity or a variant of retinitis pigmentosa?
- Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function
- Snowflake vitreoretinal degeneration: follow-up of the original family
- The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control
- Visualisation of peripheral retinal degenerations and anomalies with ocular imaging