Associated Papers
Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.
Aychoua N et al.
Jama Ophthalmology, 2026
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M et al.
American Journal of Ophthalmology, 2021
Sector retinitis pigmentosa: Report of ten cases and a review of the literature.
Coussa RG et al.
Molecular Vision, 2019
Structures of usher syndrome 1 proteins and their complexes.
Pan L et al.
Physiology (bethesda, Md.), 2012
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
Khateb S et al.
Plos One, 2012
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
Saihan Z et al.
Retina (philadelphia, Pa.), 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
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
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
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