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Mostrando 201 - 220 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.17s Limitar resultados
  1. 201
    por Nadal, Jeroni, Iglesias, María
    Publicado 2018
    “…BACKGROUND: The aim of this article is to describe visual outcomes and posterior rehabilitation of the first Usher syndrome type II (USH2) patient receiving an Argus II (®) prosthesis. …”
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    Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II
  2. 202
    “…The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METHODS: We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort. …”
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    Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
  3. 203
    “…Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin‐1 (CLRN1), leading to combined progressive hearing loss and retinal degeneration. …”
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    Clarin‐1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome
  4. 204
    “…Data concerning vision, hearing, and genetics were retrieved from the Swedish Usher database. Group comparison using frequencies, χ(2)-tests and Kruskal-Wallis tests for group comparison were used. …”
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    Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective
  5. 205
    “…In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. …”
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    Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
  6. 206
    por Cheng, Rachel A., Wiedmann, Martin
    Publicado 2021
    “…Furthermore, we discuss the complexities of the chaperone-usher fimbriae-mediated host-pathogen interactions and the apparent redundant roles of chaperone-usher fimbriae in host and tissue tropism.…”
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    Recent Advances in Our Understanding of the Diversity and Roles of Chaperone-Usher Fimbriae in Facilitating Salmonella Host and Tissue Tropism
  7. 207
    “…The unique feature of this case is the presence of bilateral macular edema in type 3 Usher syndrome, which is rarely reported in literature.…”
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    A rare case of type 3 usher syndrome with bilateral cystoid macular edema treated with topical dorzolamide
  8. 208
    “…Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. …”
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    Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
  9. 209
    “…Blindness associated with Usher syndrome type 1 (USH1) is typically characterized as rod photoreceptor degeneration, followed by secondary loss of cones. …”
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    Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish
  10. 210
    “…PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH). METHODS: This is a cross-sectional observational hospital-based study including patients presenting between March 2012 and October 2020. …”
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    Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III
  11. 211
    “…Gene therapy of Usher syndrome type 1B (USH1B) due to mutations in the large Myosin VIIA (MYO7A) gene is limited by the packaging capacity of adeno-associated viral (AAV) vectors. …”
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    Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B
  12. 212
    por Edwards, Richard, 1956 July 2-
    Publicado 2008
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    Globalisation and pedagogy : space, place and identity /
  13. 213
    “…Usher syndrome type 1 F (USH1F), caused by mutations in the protocadherin-15 gene (PCDH15), is characterized by congenital deafness, lack of balance, and progressive blindness. …”
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    Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F
  14. 214
    “…PURPOSE: This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. …”
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    Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
  15. 215
    “…Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. …”
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    A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II
  16. 216
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    Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
  17. 217
    “…Pseudomonas aeruginosa is a Gram-negative opportunistic bacterial pathogen that can cause chronic infection of the lungs of cystic fibrosis patients. Chaperone-usher systems in P. aeruginosa are known to translocate and assemble adhesive pili on the bacterial surface and contribute to biofilm formation within the host. …”
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    Crystal structure of the CupB6 adhesive tip from the chaperone-usher family of pili from Pseudomonas aeruginosa
  18. 218
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    Discovery of High-Affinity Cannabinoid Receptors Ligands through a 3D-QSAR Ushered by Scaffold-Hopping Analysis †
  19. 219
    “…Morphogenesis and mechanoelectrical transduction of the hair cell mechanoreceptor depend on the correct assembly of Usher syndrome (USH) proteins into highly organized macromolecular complexes. …”
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    Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins
  20. 220
    “…In a homozygous state, this gene is associated with Usher syndrome type 2 (USH2), a recessive disorder resulting in bilateral, high-frequency hearing loss due to atypical cochlear hair cell development. …”
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    Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD
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