Associated Papers
Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Bervoets S et al.
Cellular and Molecular Life Sciences : Cmls, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Romo-Aguas JC et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T et al.
Orphanet Journal of Rare Diseases, 2025
Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Asghar A et al.
Molecular Vision, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K et al.
Scientific Reports, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM et al.
Genes, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
Souissi A et al.
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
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
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L et al.
Acta Ophthalmologica, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.
Fry LE et al.
Jama Ophthalmology, 2021
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI et al.
Genes, 2021
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Subirà O et al.
Eye (london, England), 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
Yoshimura H et al.
Journal of Human Genetics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
Aparisi MJ et al.
Plos One, 2013
Structures of usher syndrome 1 proteins and their complexes.
Pan L et al.
Physiology (bethesda, Md.), 2012
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Wu L et al.
Science (new York, N.y.), 2011
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Baux D et al.
Human Mutation, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Riazuddin S et al.
Human Mutation, 2008
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
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T et al.
Human Mutation, 2006
Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C et al.
Ophthalmic Genetics, 2005
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
Identification of three novel mutations in the MYO7A gene.
Cuevas JM et al.
Human Mutation, 1999
Identification of three novel mutations in the MYO7A gene
Cuevas JM et al.
Human Mutation, 1999
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA et al.
Ear and Hearing, 0