Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …

Mutations in USH2A are among the most common causes of syndromic and non-syndromic
retinitis pigmentosa (RP). The two most recurrent mutations in USH2A, c. 2299delG and c …

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP)
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …

Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal
recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms …

Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a
combination of sensorineural hearing loss and a progressive loss of vision resulting from …

The use of RNA interference technology has proven to inhibit the expression of many target
genes involved in the underlying pathogenesis of several diseases affecting various …

We report ophthalmic and genetic findings in patients with autosomal recessive retinitis
pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential …

Successful sequencing of the human genome and evolving functional knowledge of gene
products has taken genomic medicine to the forefront, soon combining broadly with …

Usher syndrome (USH) is the leading cause of combined deafness-blindness with type 2 A
(USH2A) being the most common form. Knockout models of USH proteins, like the Ush2a …