Research Topics
Species | R J PenningsSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Detail Information
Publications
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole 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...
Natural history of hearing deterioration in intracanalicular vestibular schwannomaRonald 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...- Efficacy of diagnostic upper node evaluation during (salvage) laryngectomy for supraglottic carcinomaRonald 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... 
USH2A mutation analysis in 70 Dutch families with Usher syndrome type IIRonald 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...- Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinomaRonald 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.... - Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutationsRonald 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... - [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... - 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... - Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2aRonald J E Pennings
Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Acta Ophthalmol Scand 82:131-9. 2004..However, more elaborate studies, preferably covering longitudinal data, are needed to obtain conclusive evidence... - Usher syndrome type III can mimic other types of Usher syndromeRonald J E Pennings
Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Ann Otol Rhinol Laryngol 112:525-30. 2003.... - 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.... - 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.... - Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan 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... - Audiologic performance and benefit of cochlear implantation in Usher syndrome type IRonald J E Pennings
Department of Otorhinolaryngology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
Laryngoscope 116:717-22. 2006..CONCLUSIONS: Cochlear implantation in patients with USH1 improves the audiologic performance when patients are implanted at an earlier age and is beneficial according to the G(C)BI when performed within the first 2 decades of life... - Audiometric characteristics of USH2a patientsJoop 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... - Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1Barend 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... - Quality of life and cochlear implantation in Usher syndrome type IGodelieve 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... - Cochleovestibular and ocular features in a Dutch DFNA11 familyAnne 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... - Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriersAnne 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)... - Phenotype of the first otosclerosis family linked to OTSC10Nicole 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... - 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 IIErwin 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... - Visual impairment in Finnish Usher syndrome type IIIRutger F Plantinga
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Acta Ophthalmol Scand 84:36-41. 2006..At a given age, visual field impairment in USH3 patients was similar to that in USH1b patients but poorer than in USH2a patients... - 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.... - Postauricular approach atticotomy: a modified closed technique with reconstruction of the scutum with cymbal cartilageRonald 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... - Hearing impairment in genotyped Wolfram syndrome patientsRutger 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... - Analysis of Vibrant Soundbridge placement against the round window membrane in a human cadaveric temporal bone modelRonald 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... - Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A geneRonald 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... - Molecular characterization of WFS1 in patients with Wolfram syndromeJohannes M W van ven Ouweland
Department of Clinical Chemistry, Isala Klinieken, Weezenlanden, Zwolle, The Netherlands
J Mol Diagn 5:88-95. 2003.... - Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric diseaseKim 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... - Hearing impairment in Usher syndrome type IIRonald J E Pennings
Ann Otol Rhinol Laryngol 112:825. 2003 - Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim 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...