Nicole J D Weegerink

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi Phenotype of the first otosclerosis family linked to OTSC10
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Donder s Centre for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Laryngoscope 121:838-45. 2011
  2. pmc Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Assoc Res Otolaryngol 12:753-66. 2011
  3. doi Audiometric characteristics of a Dutch family with Muckle-Wells syndrome
    N J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hear Res 282:243-51. 2011
  4. doi Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family
    N J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hear Res 282:167-77. 2011
  5. pmc Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 88:628-34. 2011
  6. ncbi Phenotypes of two Dutch DFNA3 families with mutations in GJB2
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 120:191-7. 2011

Detail Information

Publications6

  1. doi Phenotype of the first otosclerosis family linked to OTSC10
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Donder s Centre for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Laryngoscope 121:838-45. 2011
    ..To report on the audiometric findings in the first otosclerosis family linked to OTSC10...
  2. pmc Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Assoc Res Otolaryngol 12:753-66. 2011
    ..Evaluation of performance of patients with a cochlear implant indicated that this is a good treatment option for patients with TMPRSS3 mutations as satisfactory speech reception was reached after implantation...
  3. doi Audiometric characteristics of a Dutch family with Muckle-Wells syndrome
    N J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hear Res 282:243-51. 2011
    ..The effect of IL-1β inhibitors on hearing impairment is more controversial, but an early start of treatment seems to be essential. Therefore, our results are of importance in patient care and counselling...
  4. doi Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family
    N J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hear Res 282:167-77. 2011
    ..Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene...
  5. pmc Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 88:628-34. 2011
    ..We hypothesize that SMPX functions in inner ear development and/or maintenance in the IGF-1 pathway, the integrin pathway through Rac1, or both...
  6. ncbi Phenotypes of two Dutch DFNA3 families with mutations in GJB2
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 120:191-7. 2011
    ..We describe the phenotype of 2 Dutch DFNA3 families with mutations in the GJB2 gene...