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USHER SYNDROME, TYPE IIA

Known as: USH2A, Usher syndrome, type 2A 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceUSH2A gene

Broader (1)

Usher Syndrome

Papers overview

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Review
2020
Review
2020
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.
BACKGROUND AND OBJECTIVE To evaluate disease characteristics and frequencies of genetic mutations in a cohort of patients with… 
Review
2020
Review
2020
Advances of Usher syndrome and USH2A gene
Usher syndrome (USH) is the most common cause of deaf-blindness diseases characterized by sensorineural hearing loss and… 
2018
2018
Towards gene therapy for USH2A-associated retinitis pigmentosa. ~Fishing for answers~
2017
2017
QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA…
2017
2017
Insights on Impact of Missense SNPs of Human USH2A associated with Usher Syndrome II
Usher syndrome, also known as Hallgren syndrome, is an extremely rare genetic disorder caused by a mutation in any one of at… 
2008
2008
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Purpose Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by… 
2007
2007
Novel USH 2 A Mutations in Israeli Patients With Retinitis Pigmentosa and Usher Syndrome Type 2
R ETINITIS PIGMENTOSA (RP) is a group of progressive rod-cone degenerations characterized by night blindness followed by visual… 
2007
2007
Analysis of Fundal Autofluorescence Images in a Cohort of Individuals With Mutations in Ush2a
2003
2003
The molecular genetics of Usher syndrome
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the… 
1999
1999
Hearing impairment related to age in Usher syndrome types 1B and 2A.
OBJECTIVE To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A. DESIGN Cross…