Publications by authors named "Ronald J C Admiraal"

30Publications

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

Int J Pediatr Otorhinolaryngol 2017 Jun 17;97:228-234. Epub 2017 Apr 17.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2017.04.024DOI Listing
June 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.

Audiol Neurootol 2016 1;21(3):187-94. Epub 2016 Jun 1.

Department of Otorhinolaryngology - Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000444120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296886PMC
February 2018

External ear anomalies and hearing impairment in Noonan Syndrome.

Int J Pediatr Otorhinolaryngol 2015 Jun 1;79(6):874-878. Epub 2015 Apr 1.

Radboud University Medical Center, Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2015.03.021DOI Listing
June 2015

Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.

Otol Neurotol 2014 Oct;35(9):1577-84

*Department of Otorhinolaryngology and Head and Neck Surgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht; †Departments of Otorhinolaryngology, Head and Neck Surgery, and ‡Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen; §Department of Pediatrics, Erasmus Medical Center/Sophia Children's Hospital, Rotterdam; ∥Department of Pediatrics, Albert Schweitzer Hospital, Dordrecht; ¶Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen; #Department of Pediatrics, Leiden University Medical Center, Leiden; and **Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MAO.0000000000000406DOI Listing
October 2014

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

Similar phenotypes caused by mutations in OTOG and OTOGL.

Ear Hear 2014 May-Jun;35(3):e84-91

1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999258PMC
February 2015

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10162-011-0282-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.

Otol Neurotol 2011 Jun;32(4):632-8

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MAO.0b013e318211fadaDOI Listing
June 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Nat Commun 2011 Feb 15;2:201. Epub 2011 Feb 15.

Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ncomms1200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105340PMC
February 2011

Causes of permanent childhood hearing impairment.

Laryngoscope 2011 Feb;121(2):409-16

Willem-Alexander Children and Youth Center, Subdepartment of Social Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/lary.21377DOI Listing
February 2011

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Am J Hum Genet 2010 Apr 25;86(4):604-10. Epub 2010 Mar 25.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850434PMC
April 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

[Psychosocial adjustment in children with a cleft lip and/or palate].

Ned Tijdschr Geneeskd 2009 ;153:B352

Universitair Medisch Centrum St Radboud, Afd. Medische Psychologie, Nijmegen, The Netherlands.

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November 2009

Results of sonotubometry in testing eustachian tube ventilatory function in children with cleft palate.

Ann Otol Rhinol Laryngol 2008 May;117(5):335-40

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348940811700502DOI Listing
May 2008

CHARGE syndrome: relations between behavioral characteristics and medical conditions.

Am J Med Genet A 2006 Apr;140(8):851-62

Department of Special Education, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31193DOI Listing
April 2006

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

Int J Pediatr Otorhinolaryngol 2005 Feb;69(2):165-74

Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2004.08.015DOI Listing
February 2005

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

Otol Neurotol 2002 Nov;23(6):876-84

Department of Otorhinolaryngology, University Medical Center, St. Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/00129492-200211000-00012DOI Listing
November 2002

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

Ann Otol Rhinol Laryngol 2002 Mar;111(3 Pt 1):267-74

Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348940211100312DOI Listing
March 2002