Associated Papers
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Wafa TT et al.
Clinical Genetics, 2021
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM et al.
Investigative Ophthalmology & Visual Science, 2014
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Imtiaz F et al.
Molecular Vision, 2012
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L et al.
Molecular Vision, 2011
A frameshift mutation in SANS results in atypical Usher syndrome.
Bashir R et al.
Clinical Genetics, 2010
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Aller E et al.
Ophthalmic Genetics, 2007
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM et al.
Human Genetics, 2005
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