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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
OBJECTIVEJoubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins involved with primary (nonmotile) cilia and ciliary basal bodies. This study describes the eye phenotype JS
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. Methods:
Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.
To investigate the relationship between a set of six candidate genes and the risk of diabetic retinopathy (DR) in a cohort of Chinese patients town community with type 2 diabetes mellitus (T2DM).
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
A framework for understanding the phenotypic features of CRX retinopathy is established.To do phenotype-genotype correlation analysis in two groups of patients with heterozygous mutation in a
Genotype and phenotype-based subgroups in geographic atrophy secondary to age-related macular degeneration. The EYE-RISK Consortium.
geographic atrophy secondary to age-related macular degeneration (GA) is considered one unit. This study aims to determine whether there is a subgroup of GA that can be defined by the genotype and