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Mostrando 141 - 160 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.52s Limitar resultados
  1. 141
    “…Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual and hearing impairments. …”
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    Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures
  2. 142
    “…PURPOSE: To characterize the expression pattern of cadherin 23 (cdh23) in the zebrafish visual system, and to determine whether zebrafish cdh23 mutants have retinal defects similar to those present in the human disease Usher syndrome 1D. METHODS: In situ hybridization and immunohistochemistry were used to characterize cdh23 expression in the zebrafish, and to evaluate cdh23 mutants for retinal degeneration. …”
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    The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells
  3. 143
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    The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells
  4. 144
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    The pvc Operon Regulates the Expression of the Pseudomonas aeruginosa Fimbrial Chaperone/Usher Pathway (Cup) Genes
  5. 145
    “…Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. …”
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    Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
  6. 146
    “…Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. …”
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    Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
  7. 147
    “…PURPOSE: The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. …”
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    Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
  8. 148
    “…Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. …”
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    Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients
  9. 149
    “…Usher syndrome type III (USH3) characterized by progressive deafness, variable balance disorder, and blindness is caused by destabilizing mutations in the gene encoding the clarin-1 protein (CLRN1). …”
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    A small molecule mitigates hearing loss in a mouse model of Usher syndrome III
  10. 150
    “…PARTICIPANTS: 90 people with Usher syndrome took part in the survey. Inclusion criteria are having a diagnosis of Usher syndrome, being 18 or older and being a UK resident. …”
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    Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome
  11. 151
    por Shih, Jing-Wen, Kung, Hsing-Jien
    Publicado 2017
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    Long non-coding RNA and tumor hypoxia: new players ushered toward an old arena
  12. 152
    “…Chaperone-usher pathway (CUP) pili are extracellular proteinaceous fibers ubiquitously found on Gram-negative bacteria, and mediate host-pathogen interactions and biofilm formation critical in pathogenesis in numerous human diseases(1). …”
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    Structural basis for usher activation and intramolecular subunit transfer in P pilus biogenesis in E. coli
  13. 153
    “…Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. …”
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    Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
  14. 154
    “…METHODS: One couple at risk of transmitting Usher Syndrome to their offspring was recruited to this study. …”
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    Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
  15. 155
    “…Usher syndrome is the most common condition of combined blindness and deafness and is classified into three types (USH1-USH3). …”
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    Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II
  16. 156
    “…A 42-year-old Hispanic female underwent intravitreal autologous adipose-tissue derived stem cell injection to her left eye in the Dominican Republic for treatment of retinitis pigmentosa associated with Usher Syndrome. Prior to intravitreal injection, the patient's best-corrected-visual-acuity (BCVA) was 1/200. …”
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    Chronic retinal detachment and neovascular glaucoma after intravitreal stem cell injection for Usher Syndrome
  17. 157
    “…PURPOSE: Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. …”
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    Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4
  18. 158
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    Ushering in Antifungal Stewardship: Perspectives of the Hematology Multidisciplinary Team Navigating Competing Demands, Constraints, and Uncertainty
  19. 159
    “…Usher syndrome is a syndromic form of hereditary hearing impairment that includes sensorineural hearing loss and delayed-onset retinitis pigmentosa (RP). …”
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    Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice
  20. 160
    “…The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20–30 % of RP cases. …”
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    USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
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