Publications by authors named "Patrick L M Huygen"

87Publications

Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal.

Otol Neurotol 2019 06;40(5S Suppl 1):S43-S50

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

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http://dx.doi.org/10.1097/MAO.0000000000002209DOI Listing
June 2019

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hear Res 2016 09 16;339:60-8. Epub 2016 Jun 16.

Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.06.008DOI Listing
September 2016

Audioprofile Surfaces: The 21st Century Audiogram.

Ann Otol Rhinol Laryngol 2016 May 3;125(5):361-8. Epub 2015 Nov 3.

Department of Electrical and Computer Engineering, University of Iowa, Iowa City, Iowa, USA Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0003489415614863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821702PMC
May 2016

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

Ear Hear 2016 Jan-Feb;37(1):103-11

1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000217DOI Listing
September 2016

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Ear Hear 2016 Jan-Feb;37(1):112-20

1Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands; 2Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands; 3Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Centre, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, UE IDIM-CONICET, University of Buenos Aires, Buenos Aires, Argentina; 6Institut d'Investigació Biomèdica Sant Pau, Universitat Aut∫noma de Barcelona, Barcelona, Spain; 7Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," and University of Trieste, Trieste, Italy; 8Department of Otorhinolaryngology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; 9Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy; and 10Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, Pavia, Italy.

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http://dx.doi.org/10.1097/AUD.0000000000000198DOI Listing
September 2016

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

PLoS Genet 2015 Mar 27;11(3):e1005137. Epub 2015 Mar 27.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology University of Iowa, Iowa City, Iowa, United States of America; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376867PMC
March 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

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.

Ann Otol Rhinol Laryngol 2014 Dec 24;123(12):859-65. Epub 2014 Jun 24.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Centre, Nijmegen, the Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/0003489414539130DOI Listing
December 2014

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

Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

Audiol Neurootol 2012 5;17(4):219-27. Epub 2012 Apr 5.

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

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http://dx.doi.org/10.1159/000336212DOI Listing
October 2012

Optokinetic response in patients with vestibular areflexia.

J Vestib Res 2011 ;21(4):219-25

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

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http://dx.doi.org/10.3233/VES-2011-0418DOI Listing
December 2011

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

Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

Ann Otol Rhinol Laryngol 2011 Jun;120(6):414-21

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

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http://dx.doi.org/10.1177/000348941112000612DOI Listing
June 2011

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

Ann Otol Rhinol Laryngol 2011 Apr;120(4):243-8

Department of Otorhinolaryngology-Raboud University Nijmegen Medical Center, Clinical Neuroscience Donders Center for Brain, Cognition and Behavior, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348941112000405DOI Listing
April 2011

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

Ann Otol Rhinol Laryngol 2011 Mar;120(3):191-7

Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348941112000308DOI Listing
March 2011

Phenotype of the first otosclerosis family linked to OTSC10.

Laryngoscope 2011 Apr;121(4):838-45

Department of Otorhinolaryngology, Donder's Centre for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/lary.21463DOI Listing
April 2011

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

Audiol Neurootol 2011 26;16(2):93-105. Epub 2010 Jun 26.

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

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http://dx.doi.org/10.1159/000313282DOI Listing
April 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

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

Ann Otol Rhinol Laryngol 2009 May;118(5):382-90

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

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http://dx.doi.org/10.1177/000348940911800511DOI Listing
May 2009

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Ann Otol Rhinol Laryngol 2009 Apr;118(4):313-20

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

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http://dx.doi.org/10.1177/000348940911800413DOI Listing
April 2009

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

Audiol Neurootol 2009 15;14(5):303-7. Epub 2009 Apr 15.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, NL-6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000212109DOI Listing
October 2009

Nijmegen results with application of a bone-anchored hearing aid in children: simplified surgical technique.

Ann Otol Rhinol Laryngol 2008 Nov;117(11):805-14

Department of Otorhinolaryngology, Donders Center of Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940811701103DOI Listing
November 2008

Clinical outcome of the simplified surgical technique for BAHA implantation.

Otol Neurotol 2008 Dec;29(8):1100-8

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

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http://dx.doi.org/10.1097/MAO.0b013e31818599b8DOI Listing
December 2008

Hearing impairment in genotyped Wolfram syndrome patients.

Ann Otol Rhinol Laryngol 2008 Jul;117(7):494-500

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

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http://dx.doi.org/10.1177/000348940811700704DOI Listing
July 2008

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Arch Otolaryngol Head Neck Surg 2008 Mar;134(3):294-300

Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/archotol.134.3.294DOI Listing
March 2008

Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.

Am J Med Genet A 2007 Jul;143A(14):1613-22

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

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http://dx.doi.org/10.1002/ajmg.a.31807DOI Listing
July 2007

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Ann Otol Rhinol Laryngol 2007 May;116(5):349-57

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

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http://dx.doi.org/10.1177/000348940711600506DOI Listing
May 2007

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

Am J Ophthalmol 2007 May 19;143(5):847-852. Epub 2007 Mar 19.

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

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http://dx.doi.org/10.1016/j.ajo.2007.01.037DOI Listing
May 2007

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Audiol Neurootol 2007 6;12(2):77-84. Epub 2006 Dec 6.

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

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http://dx.doi.org/10.1159/000097794DOI Listing
February 2007

Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.

J Assoc Res Otolaryngol 2007 Mar 30;8(1):1-7. Epub 2006 Nov 30.

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

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http://dx.doi.org/10.1007/s10162-006-0060-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538417PMC
March 2007

Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).

Otol Neurotol 2006 Sep;27(6):802-8

Department of Otorhinolaryngology, University Medical Centre, St. Radboud, Nijmegen, the Netherlands.

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https://insights.ovid.com/crossref?an=00129492-200609000-000
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http://dx.doi.org/10.1097/01.mao.0000224091.02506.a0DOI Listing
September 2006

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

J Assoc Res Otolaryngol 2006 Jun 25;7(2):173-81. Epub 2006 Apr 25.

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

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http://dx.doi.org/10.1007/s10162-006-0033-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2504577PMC
June 2006

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Audiol Neurootol 2006 23;11(5):269-75. Epub 2006 May 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex. 77030, USA.

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http://dx.doi.org/10.1159/000093525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923580PMC
January 2007

Cochleovestibular and ocular features in a Dutch DFNA11 family.

Otol Neurotol 2006 Apr;27(3):323-31

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

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http://dx.doi.org/10.1097/00129492-200604000-00006DOI Listing
April 2006

The phenotype of the first otosclerosis family linked to OTSC5.

Otol Neurotol 2006 Apr;27(3):308-15

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, and Department of Radiology, Rijnstate Hospital, Arnhem, The Netherlands.

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http://dx.doi.org/10.1097/00129492-200604000-00004DOI Listing
April 2006

Visual impairment in Finnish Usher syndrome type III.

Acta Ophthalmol Scand 2006 Feb;84(1):36-41

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1111/j.1600-0420.2005.00507.xDOI Listing
February 2006

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.

Int J Audiol 2004 Oct;43(9):523-32

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

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http://dx.doi.org/10.1080/14992020400050067DOI Listing
October 2004

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Otol Neurotol 2005 Jan;26(1):52-8

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

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http://dx.doi.org/10.1097/00129492-200501000-00009DOI Listing
January 2005

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

Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.

Ann Otol Rhinol Laryngol 2004 Nov;113(11):922-9

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

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http://dx.doi.org/10.1177/000348940411301112DOI Listing
November 2004

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.

Ann Otol Rhinol Laryngol 2004 Jul;113(7):587-93

Department of Otorhinolaryngology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1177/000348940411300714DOI Listing
July 2004

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Acta Ophthalmol Scand 2004 Apr;82(2):131-9

Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0420.2004.00234.xDOI Listing
April 2004

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8

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

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http://dx.doi.org/10.1001/archotol.130.3.281DOI Listing
March 2004

Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

Audiol Neurootol 2004 Jan-Feb;9(1):51-62

Department of Otorhinolaryngology, UMC St. Radboud, Nijmegen, Belgium.

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http://dx.doi.org/10.1159/000074187DOI Listing
February 2004

Hearing impairment in Usher syndrome type II.

Ann Otol Rhinol Laryngol 2003 Sep;112(9 Pt 1):825

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http://dx.doi.org/10.1177/000348940311200915DOI Listing
September 2003

Usher syndrome type III can mimic other types of Usher syndrome.

Ann Otol Rhinol Laryngol 2003 Jun;112(6):525-30

Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1177/000348940311200608DOI Listing
June 2003

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Arch Otolaryngol Head Neck Surg 2003 Apr;129(4):421-6

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

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http://dx.doi.org/10.1001/archotol.129.4.421DOI Listing
April 2003

Making sense of nonsyndromic deafness.

Arch Otolaryngol Head Neck Surg 2003 Apr;129(4):405-6

Department of Otolaryngology, 200 Hawkins Dr, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1001/archotol.129.4.405DOI Listing
April 2003

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.

Otol Neurotol 2003 Jan;24(1):58-63

Departmentof Otorhinolaryngology, University Medical Center Radboud, Nijegen, The Netherlands.

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http://dx.doi.org/10.1097/00129492-200301000-00013DOI Listing
January 2003

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

The clinical spectrum of maternally transmitted hearing loss.

Adv Otorhinolaryngol 2002 ;61:172-83

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

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http://dx.doi.org/10.1159/000066831DOI Listing
February 2003

Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21.

Adv Otorhinolaryngol 2002 ;61:98-106

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

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http://dx.doi.org/10.1159/000066820DOI Listing
February 2003

The clinical presentation of DFNA15/POU4F3.

Adv Otorhinolaryngol 2002 ;61:92-7

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1159/000066819DOI Listing
February 2003

The phenotype of DFNA13/COL11A2.

Adv Otorhinolaryngol 2002 ;61:85-91

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

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http://dx.doi.org/10.1159/000066804DOI Listing
February 2003

DFNA10/EYA4--the clinical picture.

Adv Otorhinolaryngol 2002 ;61:73-8

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

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http://dx.doi.org/10.1159/000066807DOI Listing
February 2003

DFNA9/COCH and its phenotype.

Adv Otorhinolaryngol 2002 ;61:66-72

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

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http://dx.doi.org/10.1159/000066806DOI Listing
February 2003

Clinical features of DFNA5.

Adv Otorhinolaryngol 2002 ;61:53-9

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

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http://dx.doi.org/10.1159/000066800DOI Listing
February 2003

DFNA2/KCNQ4 and its manifestations.

Adv Otorhinolaryngol 2002 ;61:41-6

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

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http://dx.doi.org/10.1159/000066802DOI Listing
February 2003

Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.

Arch Otolaryngol Head Neck Surg 2002 Sep;128(9):1033-8

Department of Otorhinolaryngology, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1001/archotol.128.9.1033DOI Listing
September 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