Associated Papers
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C et al.
Hgg Advances, 2023
37654703 (PubMed )
Supplement: mmc2.pdf
A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.
Major L et al.
International Journal of Molecular Sciences, 2023
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.
Stanwyck LK et al.
American Journal of Ophthalmology Case Reports, 2019
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Sengillo JD et al.
Scientific Reports, 2017
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP et al.
Hearing Research, 2016
Expressivity of hearing loss in cases with Usher syndrome type IIA.
Sadeghi AM et al.
International Journal of Audiology, 2013
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan D et al.
Journal of Human Genetics, 2009
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I et al.
Human Genetics, 2007
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E et al.
Journal of Medical Genetics, 2006
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