Associated Papers
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
Valenzano R et al.
International Journal of Molecular Sciences, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetic Testing for Inherited Retinal Dystrophies: Basic Understanding.
Soucy ME
Advances in Experimental Medicine and Biology, 2025
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.
Lee SY et al.
Clinical and Experimental Otorhinolaryngology, 2020
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.
Dad S et al.
Clinical Genetics, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
Aller E et al.
European Journal of Human Genetics : Ejhg, 2010
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
The changing face of Usher syndrome: clinical implications.
Cohen M et al.
International Journal of Audiology, 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
Genetic heterogeneity in Usher syndrome.
Keats BJ et al.
American Journal of Medical Genetics. Part A, 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
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B et al.
American Journal of Human Genetics, 2001
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
Dreyer B et al.
European Journal of Human Genetics : Ejhg, 2000
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM et al.
Ophthalmic Genetics, 2000
Recent advances in the molecular basis of inherited photoreceptor degeneration.
Clarke G et al.
Clinical Genetics, 2000
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD et al.
American Journal of Human Genetics, 2000
Mammalian cochlear genes and hereditary deafness.
Shastry BS
Microbial & Comparative Genomics, 2000
Molecular genetics of Usher syndrome.
Eudy JD et al.
Cellular and Molecular Life Sciences : Cmls, 1999
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
Liu XZ et al.
American Journal of Human Genetics, 1999
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Eudy JD et al.
Science (new York, N.y.), 1998