Publications by authors named "William J Kimberling"

56Publications

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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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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March 2015

Expressivity of hearing loss in cases with Usher syndrome type IIA.

Int J Audiol 2013 Dec 28;52(12):832-7. Epub 2013 Oct 28.

* Department of Audiology, The Sahlgrenska Academy, Institute of Neuroscience and Physiology , Göteborg , Sweden.

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December 2013

Advancing genetic testing for deafness with genomic technology.

J Med Genet 2013 Sep 26;50(9):627-34. Epub 2013 Jun 26.

Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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September 2013

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Mol Vis 2012 23;18:1719-26. Epub 2012 Jun 23.

Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS- La Fe, Avda. Campanar 21, Valencia, Spain.

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November 2012

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

Mol Vis 2012 31;18:1379-83. Epub 2012 May 31.

Department of Ophthalmology, Peking Union Medical College, Beijing, China.

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November 2012

Phenotypes in defined genotypes including siblings with Usher syndrome.

Ophthalmic Genet 2011 Jun 21;32(2):65-74. Epub 2010 Dec 21.

Department of Ophthalmology, Skåne University Hospital, Lund, Sweden.

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June 2011

Alteration of rod and cone function in children with Usher syndrome.

Eur J Ophthalmol 2011 Jan-Feb;21(1):30-8

Department of Ophthalmology, Lund University Hospital, Lund, Sweden.

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March 2011

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Invest Ophthalmol Vis Sci 2009 Apr 13;50(4):1886-94. Epub 2008 Dec 13.

Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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April 2009

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Am J Med Genet A 2008 Sep;146A(17):2258-65

Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA.

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September 2008

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

Am J Kidney Dis 2008 Dec 21;52(6):1042-50. Epub 2008 Jul 21.

Department of Medicine, Division of Renal Diseases and Hypertension, University of Colorado Denver and Health Sciences Center, Aurora, CO 80014, USA.

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December 2008

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Invest Ophthalmol Vis Sci 2008 Jun 15;49(6):2651-60. Epub 2008 Feb 15.

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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June 2008

Is hearing loss due to mutations in the Connexin 26 gene progressive?

Int J Audiol 2008 Jan;47(1):11-20

Ali Yavar Jung National Institute for the Hearing Handicapped, New Delhi, India.

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January 2008

Genotype-phenotype correlations for SLC26A4-related deafness.

Hum Genet 2007 Dec 10;122(5):451-7. Epub 2007 Aug 10.

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242, USA.

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December 2007

Branchio-oto-renal syndrome.

Am J Med Genet A 2007 Jul;143A(14):1671-8

Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA.

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July 2007

Longterm visual prognosis in Usher syndrome types 1 and 2.

Acta Ophthalmol Scand 2006 Aug;84(4):537-44

Sahlgrenska Academy, Institute of Neurology and Physiology, Department of Audiology, Gothenburg, Sweden.

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August 2006

The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development.

Hear Res 2006 May 6;215(1-2):1-9. Epub 2006 May 6.

Department of Internal Medicine, Division of Pulmonary Medicine, University of Iowa, 440 EMRB, Iowa City, IA 52242, USA.

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May 2006

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

Hum Mutat 2005 Nov;26(5):462-70

Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital and the Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, Nebraska 68131, USA.

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November 2005

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

Int J Audiol 2005 May;44(5):307-16

The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Dept. of Audiology, Box 452, SE-405 30 Gothenburg, Sweden.

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May 2005

Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

Mol Vis 2004 Nov 24;10:910-6. Epub 2004 Nov 24.

Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India.

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November 2004

Audiological findings in Usher syndrome types IIa and II (non-IIa).

Int J Audiol 2004 Mar;43(3):136-43

Department of Audiology, The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Gothenburg, Sweden.

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March 2004

Kinetics of visual field loss in Usher syndrome Type II.

Invest Ophthalmol Vis Sci 2004 Mar;45(3):784-92

Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

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March 2004

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

Am J Hum Genet 2004 Feb 20;74(2):357-66. Epub 2004 Jan 20.

Center for the Study and Treatment of Usher Syndrome, Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA.

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February 2004

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.

J Cell Sci 2004 Jan;117(Pt 2):233-42

Usher Syndrome Center, Boys Town National Research Hospital, 555 No. 30th Street, Omaha, Nebraska, 68131, USA.

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January 2004

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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June 2003

Hearing loss in Usher syndrome type II is nonprogressive.

Ann Otol Rhinol Laryngol 2002 Dec;111(12 Pt 1):1108-11

Department of Otolaryngology-Head and Neck Surgery, University of Heidelberg, Heidelberg, Germany.

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December 2002

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Am J Hum Genet 2002 Sep 16;71(3):607-17. Epub 2002 Jul 16.

Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital Omaha, NE, 68131, USA.

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September 2002

Searching for evidence of DFNB2.

Am J Med Genet 2002 May;109(4):291-7

Gene Marker Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA.

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May 2002