Publications by authors named "Anne Oonk"

12Publications

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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June 2019

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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July 2018

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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September 2016

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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December 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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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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February 2015

Radiologic confirmation of patulous eustachian tube by recumbent computed tomography.

Otol Neurotol 2014 Mar;35(3):e117-8

*Department of Otorhinolaryngology, and †Department of Radiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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March 2014

Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness.

Breast Cancer Res 2011 Oct 27;13(5):R107. Epub 2011 Oct 27.

Department of Experimental Therapy, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.

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October 2011