Publications by authors named "Johannes R M Cruysberg"

29Publications

Recurrence of paraproteinemic crystalline keratopathy after corneal transplantation: A case of monoclonal gammopathy of ocular significance.

Am J Ophthalmol Case Rep 2020 Sep 2;19:100803. Epub 2020 Jul 2.

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

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http://dx.doi.org/10.1016/j.ajoc.2020.100803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350135PMC
September 2020

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Ophthalmol Retina 2019 06 7;3(6):500-509. Epub 2019 Feb 7.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.oret.2019.01.023DOI Listing
June 2019

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Eur J Pediatr 2018 Aug 9;177(8):1293-1298. Epub 2018 Jun 9.

Department of Pediatrics, Radboud University Medical Center Amalia Children's hospital, P.O. Box, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-018-3183-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061046PMC
August 2018

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.

Acta Ophthalmol 2016 Nov 7;94(7):e663-e664. Epub 2016 Apr 7.

Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/aos.13042DOI Listing
November 2016

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

Ophthalmology 2016 10 9;123(10):2137-46. Epub 2016 Aug 9.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420163059
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http://dx.doi.org/10.1016/j.ophtha.2016.06.061DOI Listing
October 2016

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.

Br J Ophthalmol 2013 May 20;97(5):583-7. Epub 2013 Feb 20.

Department of Ophthalmology, Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302367DOI Listing
May 2013

Let us be clear: a cornea has no axis; a cornea has meridians.

J Cataract Refract Surg 2012 May;38(5):923; author reply 923

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http://dx.doi.org/10.1016/j.jcrs.2012.02.024DOI Listing
May 2012

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

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.

Ann Otol Rhinol Laryngol 2010 Dec;119(12):806-14

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

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http://journals.sagepub.com/doi/10.1177/000348941011901204
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http://dx.doi.org/10.1177/000348941011901204DOI Listing
December 2010

Patients with Sjögren-Larsson syndrome lack macular pigment.

Ophthalmology 2010 May 16;117(5):966-71. Epub 2010 Feb 16.

University Eye Clinic, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2009.10.019DOI Listing
May 2010

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Mol Vis 2010 Jan 12;16:26-35. Epub 2010 Jan 12.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805421PMC
January 2010

Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography.

Ophthalmology 2008 May 12;115(5):870-5. Epub 2007 Sep 12.

Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2007.05.063DOI Listing
May 2008

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

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

Traumatic cranial nerve palsy.

N Engl J Med 2006 Mar;354(10):1096; author reply 1096

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http://dx.doi.org/10.1056/NEJMc053314DOI Listing
March 2006

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Pediatr Neurol 2005 Oct;33(4):277-9

Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.04.011DOI Listing
October 2005

Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors.

Thromb Haemost 2005 Jun;93(6):1021-6

Department of General Internal Medicine 591, Radboud University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1160/TH04-11-0768DOI Listing
June 2005

The neuro-ophthalmology of multiple sclerosis.

Lancet Neurol 2005 Apr;4(4):209

Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/S1474-4422(05)70029-6DOI Listing
April 2005

Stickler syndrome type I and Stapes ankylosis.

Int J Pediatr Otorhinolaryngol 2004 Dec;68(12):1573-80

Department of Otorhinolaryngology Head and Neck Surgery, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2004.07.015DOI Listing
December 2004

Endogenous endophthalmitis after otitis media.

Am J Ophthalmol 2004 Jan;137(1):202-4

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

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http://dx.doi.org/10.1016/s0002-9394(03)00836-5DOI Listing
January 2004

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Neurology 2003 Aug;61(3):327-33

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

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http://dx.doi.org/10.1212/01.wnl.0000076484.91275.cdDOI Listing
August 2003

Misspelling of Peters anomaly.

Am J Ophthalmol 2003 Feb;135(2):260; author reply 261

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http://dx.doi.org/10.1016/s0002-9394(02)01951-7DOI Listing
February 2003

Incidence of retinoblastoma in children born after in-vitro fertilisation.

Lancet 2003 Jan;361(9354):309-10

Department of Ophthalmology, Vrije Universiteit Medical Centre, 1081 HV, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(03)12332-XDOI Listing
January 2003

Bilateral sporadic retinoblastoma in a child born after in vitro fertilization.

Arch Ophthalmol 2002 Dec;120(12):1773; author reply 1773-4

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December 2002

Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.

Am J Ophthalmol 2002 Mar;133(3):410-3

Institutes of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s0002-9394(01)01333-2DOI Listing
March 2002