Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
R Ratnapriya, A Swaroop - Genome medicine, 2013 - Springer
Inherited retinal degenerative diseases (RDDs) display wide variation in their mode of
inheritance, underlying genetic defects, age of onset, and phenotypic severity. Molecular …
inheritance, underlying genetic defects, age of onset, and phenotypic severity. Molecular …
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
S Roosing, IJC Lamers, E de Vrieze… - The American Journal of …, 2014 - cell.com
Exome sequencing revealed a homozygous missense mutation (c. 317C> G [p. Arg106Pro])
in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive …
in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive …
Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive
inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs …
inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs …
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
S El Shamieh, M Neuillé, A Terray, E Orhan… - The American Journal of …, 2014 - cell.com
Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited
retinal disorder characterized by photoreceptor cell death and genetic heterogeneity …
retinal disorder characterized by photoreceptor cell death and genetic heterogeneity …
Substantial restoration of night vision in adult mice with congenital stationary night blindness
Complete congenital stationary night blindness (cCSNB) due to mutations in TRPM1, GRM6,
GPR179, NYX, or leucine-rich repeat immunoglobulin-like transmembrane domain 3 …
GPR179, NYX, or leucine-rich repeat immunoglobulin-like transmembrane domain 3 …
[HTML][HTML] Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
Purpose This study was undertaken to investigate the causal mutations responsible for
autosomal recessive congenital stationary night blindness (CSNB) in consanguineous …
autosomal recessive congenital stationary night blindness (CSNB) in consanguineous …