R J Pennings

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. 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
  2. doi request reprint Natural history of hearing deterioration in intracanalicular vestibular schwannoma
    Ronald J E Pennings
    Division of Otolaryngology Head and Neck Surgery, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada
    Neurosurgery 68:68-77. 2011
  3. doi request reprint Efficacy of diagnostic upper node evaluation during (salvage) laryngectomy for supraglottic carcinoma
    Ronald J E Pennings
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Head Neck 31:158-66. 2009
  4. ncbi request reprint USH2A mutation analysis in 70 Dutch families with Usher syndrome type II
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC Nijmegen, The Netherlands
    Hum Mutat 24:185. 2004
  5. doi request reprint Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma
    Ronald J E Pennings
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Surg 197:666-73. 2009
  6. ncbi request reprint Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, Belgium
    Audiol Neurootol 9:51-62. 2004
  7. ncbi request reprint [From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]
    R J Pennings
    Universitair Medisch Centrum St Radboud, afd Keel, Neus en Oorheelkunde, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 147:2170-2. 2003
  8. ncbi request reprint Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
    Otol Neurotol 25:699-706. 2004
  9. ncbi request reprint Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
    Ronald J E Pennings
    Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Acta Ophthalmol Scand 82:131-9. 2004
  10. ncbi request reprint Usher syndrome type III can mimic other types of Usher syndrome
    Ronald J E Pennings
    Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 112:525-30. 2003

Collaborators

Detail Information

Publications31

  1. 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...
  2. doi request reprint Natural history of hearing deterioration in intracanalicular vestibular schwannoma
    Ronald J E Pennings
    Division of Otolaryngology Head and Neck Surgery, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada
    Neurosurgery 68:68-77. 2011
    ..Intracanalicular vestibular schwannomas have a range of treatment options that can preserve hearing: microsurgery, stereotactic radiotherapy, and conservative observation...
  3. doi request reprint Efficacy of diagnostic upper node evaluation during (salvage) laryngectomy for supraglottic carcinoma
    Ronald J E Pennings
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Head Neck 31:158-66. 2009
    ..These diagnostic procedures aimed to cause less morbidity than elective neck dissection in patients with a clinically N0 neck...
  4. ncbi request reprint USH2A mutation analysis in 70 Dutch families with Usher syndrome type II
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC Nijmegen, The Netherlands
    Hum Mutat 24:185. 2004
    ..It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles...
  5. doi request reprint Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma
    Ronald J E Pennings
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Surg 197:666-73. 2009
    ....
  6. ncbi request reprint Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, Belgium
    Audiol Neurootol 9:51-62. 2004
    ..The age of onset (90% phoneme recognition score) was 21 years and the onset level 78 dB HL. The deterioration rate was 4.0% per year and the deterioration gradient 1.4% per dB HL. One of the 6 examined patients had vestibular areflexia...
  7. ncbi request reprint [From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]
    R J Pennings
    Universitair Medisch Centrum St Radboud, afd Keel, Neus en Oorheelkunde, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 147:2170-2. 2003
    ..It is the only known form of dominantly inherited low-frequency hearing impairment in the Netherlands. It is caused by heterozygous non-inactivating mutations in the WFSI gene, which are also present in the Wolfram or DIDMOAD syndrome...
  8. ncbi request reprint Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
    Otol Neurotol 25:699-706. 2004
    ..To describe the findings of audiovestibular and ophthalmologic examinations in four families with mutations in the CDH23 gene...
  9. ncbi request reprint Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
    Ronald J E Pennings
    Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Acta Ophthalmol Scand 82:131-9. 2004
    ..To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a)...
  10. ncbi request reprint Usher syndrome type III can mimic other types of Usher syndrome
    Ronald J E Pennings
    Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 112:525-30. 2003
    ....
  11. ncbi request reprint Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1)
    Ronald J E Pennings
    Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Arch Otolaryngol Head Neck Surg 129:421-6. 2003
    ....
  12. ncbi request reprint Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)
    Vedat Topsakal
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, The Netherlands
    Otol Neurotol 26:52-8. 2005
    ..Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impairment guided only by the phenotype...
  13. ncbi request reprint Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
    Arjan P M de Brouwer
    Department of Otorhinolaryngology, University Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 112:156-63. 2003
    ..DFNB12 is the first human disorder that can be attributed to inherited missense mutations in the highly conserved residues of the extracellular calcium-binding domain of a cadherin...
  14. ncbi request reprint Audiologic performance and benefit of cochlear implantation in Usher syndrome type I
    Ronald J E Pennings
    Department of Otorhinolaryngology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Laryngoscope 116:717-22. 2006
    ..The objective of this retrospective study was to evaluate the benefit and performance of cochlear implantation in patients with Usher syndrome type 1 (USH1)...
  15. doi request reprint Audiometric characteristics of USH2a patients
    Joop M Leijendeckers
    Department of Otorhinolaryngology Audiology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Audiol Neurootol 14:223-31. 2009
    ..To our knowledge, this is the first study that presents results on audiometric measurements combined with psychophysical measurements in a group of USH2a patients...
  16. pmc Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
    Barend F T Hogewind
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Vis 16:26-35. 2010
    ..To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series...
  17. ncbi request reprint Quality of life and cochlear implantation in Usher syndrome type I
    Godelieve W J A Damen
    Department of Otorhinolaryngology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Laryngoscope 116:723-8. 2006
    ..The objectives of this descriptive, retrospective study were to evaluate quality of life, hearing, and vision in patients with Usher syndrome type I with and without cochlear implant...
  18. ncbi request reprint Cochleovestibular and ocular features in a Dutch DFNA11 family
    Anne M L C Bischoff
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Otol Neurotol 27:323-31. 2006
    ..To report hearing impairment and vestibular and ocular features in a Dutch DFNA11 family and to compare these results to reported data on three other DFNA11 families...
  19. ncbi request reprint Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers
    Anne M L C Bischoff
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Otol Neurotol 26:918-25. 2005
    ..To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74)...
  20. doi request reprint 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...
  21. pmc Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    Erwin Van Wijk
    Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 74:738-44. 2004
    ..The presence of pathogenic mutations in the novel exons indicates that at least one of the putative long isoforms of the USH2A protein plays a role in both hearing and vision...
  22. ncbi request reprint Visual impairment in Finnish Usher syndrome type III
    Rutger F Plantinga
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Acta Ophthalmol Scand 84:36-41. 2006
    ..To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with visual impairment in Usher syndrome types 1b (USH1b) and 2a (USH2a)...
  23. ncbi request reprint Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
    Mirjam W J Luijendijk
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Genet 115:149-56. 2004
    ....
  24. ncbi request reprint Postauricular approach atticotomy: a modified closed technique with reconstruction of the scutum with cymbal cartilage
    Ronald J E Pennings
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 118:199-204. 2009
    ..We studied the results of postauricular approach atticotomy in patients with cholesteatoma of the anterior epitympanum...
  25. ncbi request reprint Hearing impairment in genotyped Wolfram syndrome patients
    Rutger F Plantinga
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 117:494-500. 2008
    ..We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment...
  26. doi request reprint Analysis of Vibrant Soundbridge placement against the round window membrane in a human cadaveric temporal bone model
    Ronald J E Pennings
    Division of Otolaryngology, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada
    Otol Neurotol 31:998-1003. 2010
    ..To evaluate optimal placement of the Floating Mass Transducer of the Vibrant Soundbridge (Med-El, Innsbruck, Austria) against the round window membrane, particularly the impact of interposed coupling fascia and of covering materials...
  27. ncbi request reprint Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene
    Ronald J E Pennings
    Departmentof Otorhinolaryngology, University Medical Center Radboud, Nijegen, The Netherlands
    Otol Neurotol 24:58-63. 2003
    ..To establish the audiometric profile and speech recognition characteristics in 36 Usher IIa patients, carrying one (A) or two (B) pathogenic mutations in the gene...
  28. pmc Molecular characterization of WFS1 in patients with Wolfram syndrome
    Johannes M W van ven Ouweland
    Department of Clinical Chemistry, Isala Klinieken, Weezenlanden, Zwolle, The Netherlands
    J Mol Diagn 5:88-95. 2003
    ....
  29. ncbi request reprint Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 22:275-87. 2003
    ..In this paper, we provide an overview of the currently known disease-causing and benign allele variants of WFS1 and propose a potential genotype-phenotype correlation for Wolfram syndrome and LFSNHI...
  30. ncbi request reprint Hearing impairment in Usher syndrome type II
    Ronald J E Pennings
    Ann Otol Rhinol Laryngol 112:825. 2003
  31. ncbi request reprint Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Genet 110:389-94. 2002
    ..In contrast, 64% of the Wolfram syndrome mutations are inactivating. Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment...