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  1. 661
    “…INTRODUCTION: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. …”
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    Caracterización fenotípica de la retinitis pigmentaria asociada a sordera
  2. 662
    “…BACKGROUND: Usher Syndrome is the leading cause of inherited deaf-blindness. …”
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    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
  3. 663
    “…Here, we compare the molecular and cellular features of hearing organs in Drosophila with those of vertebrates, and discuss recent evidence concerning the functional conservation of Usher proteins between flies and mammals. Mutations in Usher genes cause Usher syndrome, the leading cause of human deafness and blindness. …”
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    Using Drosophila to study mechanisms of hereditary hearing loss
  4. 664
    “…Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. …”
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    Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function
  5. 665
    “…BACKGROUND: Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). …”
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    Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
  6. 666
    “…Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. …”
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    Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients
  7. 667
    “…The package incorporates several pandemic-specific optimization and parallelization techniques and comprises four programs: UShER, matOptimize, RIPPLES and matUtils. Using high-performance computing, UShER and matOptimize maintain and refine daily a massive mutation-annotated phylogenetic tree consisting of all SARS-CoV-2 sequences available in online repositories. …”
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    Pandemic-scale phylogenetics
  8. 668
    “…PURPOSE: Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F). …”
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    Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
  9. 669
    Libro
    Visi noti, sentimenti confusi
  10. 670
    Libro
    Grande e piccolo
  11. 671
    “…P pili are hair-like adhesive structures that are assembled on the outer membrane (OM) of uropathogenic Escherichia coli by the chaperone-usher pathway. In this pathway, chaperone-subunit complexes are formed in the periplasm and targeted to an OM assembly platform, the usher. …”
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    Second Order Rate Constants of Donor-Strand Exchange Reveal Individual Amino Acid Residues Important in Determining the Subunit Specificity of Pilus Biogenesis
  12. 672
    “…Intriguingly, dysc is the closest Drosophila homolog of whirlin, a gene linked to type II Usher syndrome, the leading cause of deaf-blindness in humans. …”
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    dyschronic, a Drosophila Homolog of a Deaf-Blindness Gene, Regulates Circadian Output and Slowpoke Channels
  13. 673
    “…Pathogenic mutations in SANS/USH1G lead to Usher syndrome—the most common cause of deaf-blindness. …”
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    SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes
  14. 674
    “…AVAILABILITY AND IMPLEMENTATION: The matOptimize code is freely available as part of the UShER package (https://github.com/yatisht/usher) and can also be installed via bioconda (https://bioconda.github.io/recipes/usher/README.html). …”
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    matOptimize: a parallel tree optimization method enables online phylogenetics for SARS-CoV-2
  15. 675
    “…BACKGROUND: Mutations in the USH2A gene are the leading cause of both non-syndromic autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, a syndromic form of RP characterized by retinal dystrophy and sensorineural hearing loss. …”
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    USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients
  16. 676
    “…Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. …”
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    Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
  17. 677
    “…CONCLUSION: Review of our data conflict with findings from the USHER study surrounding false positive OraQuick HIV screening. …”
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    Another look at Emergency Department HIV screening in practice: no need to revise expectations
  18. 678
    “…Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. …”
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    Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)
  19. 679
    “…A number of Chaperone-Usher Pathways, namely CupA-CupE, play key roles in these processes by assembling adhesive pili on the bacterial surface. …”
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    Structure–function analysis reveals that the Pseudomonas aeruginosa Tps4 two-partner secretion system is involved in CupB5 translocation
  20. 680
    “…Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. …”
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    USH2A-retinopathy: From genetics to therapeutics
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