Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Computational study of deleterious missense SNPs in the USH1G gene implicated in Usher syndrome.
El Khair K et al.
Journal of Biomolecular Structure & Dynamics, 2025
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
D'Esposito F et al.
European Journal of Ophthalmology, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C et al.
Molecular Genetics & Genomic Medicine, 2017
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Sorusch N et al.
Human Molecular Genetics, 2017
Structures of usher syndrome 1 proteins and their complexes.
Pan L et al.
Physiology (bethesda, Md.), 2012
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Imtiaz F et al.
Molecular Vision, 2012
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
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
Yan J et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
The changing face of Usher syndrome: clinical implications.
Cohen M et al.
International Journal of Audiology, 2007
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
Maria Oonk AM et al.
Ear and Hearing, 0