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
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Sengillo JD et al.
Scientific Reports, 2017
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Zein WM et al.
Investigative Ophthalmology & Visual Science, 2014
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
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
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF et al.
Journal of Medical Genetics, 2006
Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C et al.
Ophthalmic Genetics, 2005
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
Aller E et al.
Clinical Genetics, 2004
Mutational spectrum in Usher syndrome type II.
Ouyang XM et al.
Clinical Genetics, 2004
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Nájera C et al.
Human Mutation, 2002
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
Rivolta C et al.
American Journal of Human Genetics, 2000
Deafness genes and their diagnostic applications.
Cryns K et al.
Audiology & Neuro-otology, 0
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