Materias dentro de su búsqueda.
Mostrando 221 - 240 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.20s Limitar resultados
  1. 221
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Rhythmicity in heart rate and its surges usher a special period of sleep, a likely home for PGO waves
  2. 222
    “…BACKGROUND: Usher Syndrome is the commonest cause of inherited blindness and deafness. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report
  3. 223
    “…PURPOSE: Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort
  4. 224
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hypoxia-responsive circRNAs: A novel but important participant in non-coding RNAs ushered toward tumor hypoxia
  5. 225
    “…PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
  6. 226
    “…Moreover, USH2A variants give rise to non-syndromic and syndromic RP, known as Usher syndrome (USH) type 2, which is associated with vision and hearing loss. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
  7. 227
    “…PURPOSE: Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. …”
    Enlace del recurso
    Enlace del recurso
    Texto
    Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
  8. 228
    “…BACKGROUND: Usher syndrome (USH) is the most common disease causing combined deafness and blindness. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
  9. 229
    por Snow, Pamela C.
    Publicado 2016
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Elizabeth Usher Memorial Lecture: Language is literacy is language - Positioning speech-language pathology in education policy, practice, paradigms and polemics
  10. 230
    “…The mono-ubiquitination of Myosin II promotes its physical interaction with Myosin VIIa, a protein responsible for Usher syndrome type IB. We show that ubr3 mutants phenocopy pathogenic variants of Myosin II and that Ubr3 interacts genetically and physically with three Usher syndrome proteins. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals
  11. 231
    “…Aims: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype–genotype correlation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
  12. 232
    “…Genome sequencing enabled us to identify a chaperone-usher pili system (Kpi) in Kp3380. Analysis of a large K. pneumoniae population from 32 European countries showed that the Kpi system is associated with the ST-15 clone. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Kpi, a chaperone-usher pili system associated with the worldwide-disseminated high-risk clone Klebsiella pneumoniae ST-15
  13. 233
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Vibrio cholerae O139 genomes provide a clue to why it may have failed to usher in the eighth cholera pandemic
  14. 234
    por Usher, Abbott Payson, 1883-1965
    Publicado 1941
    Libro
    Historia de las invenciones mecánicas /
  15. 235
    “…Usher Syndrome (USH) is a genetically inherited condition characterized by congenital sensorineural hearing loss and progressive vision loss secondary to retinitis pigmentosa. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report
  16. 236
    “…These results enlarge the spectrum and complexity of the phenotypic consequences of USH gene mutations beyond the simple Mendelian inheritance of classical Usher syndrome.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss
  17. 237
    “…Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B.  In the retina, the majority of MYO7A is in the retinal pigmented epithelium (RPE), where many of the reactions of the visual retinoid cycle take place.  …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65
  18. 238
    “…Usher syndrome type 1B is a combined deaf-blindness condition caused by mutations in the MYO7A gene. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat
  19. 239
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genomic Editing of Non-Coding RNA Genes with CRISPR/Cas9 Ushers in a Potential Novel Approach to Study and Treat Schizophrenia
  20. 240
    “…We previously reported that the cerebrospinal fluid (CSF) concentration of lateral olfactory tract usher substance (LOTUS), which promotes axonal growth as a Nogo receptor 1 antagonist, negatively correlates with disease activity in multiple sclerosis, suggesting that variation in LOTUS reflects the inflammatory activities and is a useful biomarker to evaluate the disease activity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation
Herramientas de búsqueda: RSS