Mostrando 61 - 80 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.24s Limitar resultados
  1. 61
    “…Background: This study aimed to compare phenotype–genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. …”
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  2. 62
    “…Mutations in the USH2A gene cause Usher Syndrome type II (USH2), which is the most common subtype of Usher Syndrome and the focus of this review. …”
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  4. 64
    “…PURPOSE: Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. …”
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  5. 65
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  7. 67
    “…PURPOSE: To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I. METHODS: Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. …”
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  8. 68
  9. 69
    “…During pilus biogenesis, subunits are recruited to an outer membrane assembly platform, the FimD usher, which catalyzes their polymerization and mediates pilus secretion(2). …”
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  10. 70
    por Lillington, James, Waksman, Gabriel
    Publicado 2013
    “…Type I and P pili are chaperone-usher pili of uropathogenic Escherichia coli, which allow bacteria to adhere to host cell receptors. …”
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    “…BACKGROUND: To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A mutations. …”
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  14. 74
    “…Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. …”
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  15. 75
    “…Adhesive chaperone-usher pili are long, supramolecular protein fibers displayed on the surface of many bacterial pathogens. …”
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  16. 76
  17. 77
    “…We provide novel data on the read-through efficacy of Ataluren on a nonsense mutation in the Usher syndrome gene USH2A that causes deaf-blindness in humans. …”
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  18. 78
    “…Usher syndrome is a genetic disorder causing neurosensory hearing loss and blindness from retinitis pigmentosa (RP). …”
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  19. 79
    “…Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and severely affects the senses of hearing, vision, and balance. …”
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  20. 80
    “…Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often assumed to have USH. …”
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