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Mostrando 241 - 260 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.16s Limitar resultados
  1. 241
    “…Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). …”
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    Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing
  2. 242
    “…Usher syndrome is the most common cause of deafness-blindness in the world. …”
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    Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B
  3. 243
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    Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids
  4. 244
    “…PURPOSE: To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). METHODS: One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. …”
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    Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
  5. 245
    “…We show that CIB2 is a new member of the vertebrate Usher interactome.…”
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    Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
  6. 246
    “…CONCLUSIONS: The phenotype of Homozygous 11p15-p14 Deletion syndrome, or Usher-CHI syndrome, includes any severity of neonatal-onset CHI and severe, sensorineural hearing loss. …”
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    Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome: Hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes
  7. 247
    “…Usher syndrome is an autosomal recessive disorder characterized both by deafness and blindness. …”
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    Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
  8. 248
    “…BACKGROUND: Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. …”
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    A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
  9. 249
    “…Recent findings demonstrate the involvement of CIB2 in hearing physiology and a single, conservative point mutation (p.E64D) has been related to Usher Syndrome type 1J (USH1J) and non-syndromic hearing loss. …”
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    Preferential Binding of Mg(2+) Over Ca(2+) to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J
  10. 250
    “…The probands and their family members showed typical RP features and mild to severe hearing impairment, confirming the diagnosis of Usher syndrome 2 (USH). Moreover, 11 sporadic RP patients were identified to carry the compound heterozygous mutations in the USH2A gene, confirming the diagnosis of USH2. …”
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    Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients
  11. 251
    “…BACKGROUND: Usher syndrome (USH) is the most prevalent cause of the human genetic deafness and blindness. …”
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    Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
  12. 252
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    Profound reductions in first and total cardiovascular events with icosapent ethyl in the REDUCE-IT trial: why these results usher in a new era in dyslipidaemia therapeutics
  13. 253
    “…BACKGROUND: Usher syndrome is a disease with a heterogeneous phenotype and genotype. …”
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    Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report
  14. 254
    “…In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. …”
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    Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
  15. 255
    Publicado 1854
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    Address of Usher Parsons, M. D., First Vice President of the National Medical Association, on Taking the Chair, at Its Recent Meeting at St. Louis
  16. 256
    “…The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using whole-exome sequencing. …”
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    Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon
  17. 257
    “…BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. …”
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    Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
  18. 258
    “…CONCLUSIONS: Data published so far emphasize unique biological properties of the DraD invasin as fimbrial subunit: a chaperone independent folding, an usher independent surface localization and the possibility to exist in two forms: as unbound subunits and as loosely bound at fimbrial tip. …”
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    Analysis of the unique structural and physicochemical properties of the DraD/AfaD invasin in the context of its belonging to the family of chaperone/usher type fimbrial subunits
  19. 259
    “…This is the second report of DFNB31 implication in Usher type 2.…”
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    A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
  20. 260
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    Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells
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