Publications by authors named "Ramon A C van Huet"

20Publications

Long-term outcomes of vitrectomy for proliferative diabetic retinopathy.

Authors:
Vivian Schreur Jody Brouwers Ramon A C Van Huet Sandra Smeets Milan Phan Carel B Hoyng Eiko K de Jong B Jeroen Klevering

Acta Ophthalmol 2020 Jul 9. Epub 2020 Jul 9.

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

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July 2020

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Authors:
Sanne K Verbakel Ramon A C van Huet Anneke I den Hollander Maartje J Geerlings Eveline Kersten B Jeroen Klevering Caroline C W Klaver Astrid S Plomp Nieneke L Wesseling Arthur A B Bergen Konstantinos Nikopoulos Carlo Rivolta Yasuhiro Ikeda Koh-Hei Sonoda Yuko Wada Camiel J F Boon Toru Nakazawa Carel B Hoyng Koji M Nishiguchi

Invest Ophthalmol Vis Sci 2019 03;60(4):1192-1203

Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

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March 2019

Non-syndromic retinitis pigmentosa.

Authors:
Sanne K Verbakel Ramon A C van Huet Camiel J F Boon Anneke I den Hollander Rob W J Collin Caroline C W Klaver Carel B Hoyng Ronald Roepman B Jeroen Klevering

Prog Retin Eye Res 2018 09 27;66:157-186. Epub 2018 Mar 27.

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

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September 2018

Reply: To PMID 25267528.

Authors:
Nicole T M Saksens Ramon A C van Huet Janneke J C van Lith-Verhoeven Anneke I den Hollander Carel B Hoyng Camiel J F Boon

Ophthalmology 2015 Oct;122(10):e60

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

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October 2015

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

Authors:
Ramon A C van Huet Laurence H M Pierrache Magda A Meester-Smoor Caroline C W Klaver L Ingeborgh van den Born Carel B Hoyng Ilse J de Wijs Rob W J Collin Lies H Hoefsloot B Jeroen Klevering

Mol Vis 2015 28;21:461-76. Epub 2015 Apr 28.

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

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April 2016

The effect of light deprivation in patients with Stargardt disease.

Authors:
Michel M Teussink Michele D Lee R Theodore Smith Ramon A C van Huet Caroline C Klaver B Jeroen Klevering Thomas Theelen Carel B Hoyng

Am J Ophthalmol 2015 May 11;159(5):964-72.e2. Epub 2015 Feb 11.

Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands.

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May 2015

Early-onset stargardt disease: phenotypic and genotypic characteristics.

Authors:
Stanley Lambertus Ramon A C van Huet Nathalie M Bax Lies H Hoefsloot Frans P M Cremers Camiel J F Boon B Jeroen Klevering Carel B Hoyng

Ophthalmology 2015 Feb 17;122(2):335-44. Epub 2014 Oct 17.

Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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February 2015

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

Authors:
Ramon A C van Huet Clasien J Oomen Astrid S Plomp Maria M van Genderen B Jeroen Klevering Reinier O Schlingemann Caroline C W Klaver L Ingeborgh van den Born Frans P M Cremers

Invest Ophthalmol Vis Sci 2014 Nov 17;55(11):7355-60. Epub 2014 Nov 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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November 2014

Zinc supplementation inhibits complement activation in age-related macular degeneration.

Authors:
Dzenita Smailhodzic Freekje van Asten Anna M Blom Frida C Mohlin Anneke I den Hollander Johannes P H van de Ven Ramon A C van Huet Joannes M M Groenewoud Yuan Tian Tos T J M Berendschot Yara T E Lechanteur Sascha Fauser Chris de Bruijn Mohamed R Daha Gert Jan van der Wilt Carel B Hoyng B Jeroen Klevering

PLoS One 2014 13;9(11):e112682. Epub 2014 Nov 13.

Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands.

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July 2015

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

Authors:
Ramon A C van Huet Anna M Siemiatkowska Riza K Özgül Didem Yücel Carel B Hoyng Eyal Banin Anat Blumenfeld Ygal Rotenstreich Frans C C Riemslag Anneke I den Hollander Thomas Theelen Rob W J Collin L Ingeborgh van den Born B Jeroen Klevering

Acta Ophthalmol 2015 Feb 11;93(1):83-94. Epub 2014 Nov 11.

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

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February 2015

Foveal sparing in Stargardt disease.

Authors:
Ramon A C van Huet Nathalie M Bax Sarah C Westeneng-Van Haaften Muhamad Muhamad Marijke N Zonneveld-Vrieling Lies H Hoefsloot Frans P M Cremers Camiel J F Boon B Jeroen Klevering Carel B Hoyng

Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7467-78. Epub 2014 Oct 16.

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

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October 2014

Dominant cystoid macular dystrophy.

Authors:
Nicole T M Saksens Ramon A C van Huet Janneke J C van Lith-Verhoeven Anneke I den Hollander Carel B Hoyng Camiel J F Boon

Ophthalmology 2015 Jan 26;122(1):180-91. Epub 2014 Sep 26.

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

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January 2015

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

Authors:
Anne Marthe Maria Oonk Ramon A C van Huet Joop M Leijendeckers Jaap Oostrik Hanka Venselaar Erwin van Wijk Andy Beynon Henricus P M Kunst Carel B Hoyng Hannie Kremer Margit Schraders Ronald J E Pennings

Ear Hear 2015 Mar-Apr;36(2):205-11

1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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May 2016

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Authors:
Anna M Siemiatkowska L Ingeborgh van den Born Maria M van Genderen Mette Bertelsen Ditta Zobor Klaus Rohrschneider Ramon A C van Huet Siska Nurohmah B Jeroen Klevering Susanne Kohl Sultana M H Faradz Thomas Rosenberg Anneke I den Hollander Rob W J Collin Frans P M Cremers

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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September 2014

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

Authors:
Ramon A C van Huet Rob W J Collin Anna M Siemiatkowska Caroline C W Klaver Carel B Hoyng Francesca Simonelli Muhammad I Khan Raheel Qamar Eyal Banin Frans P M Cremers Thomas Theelen Anneke I den Hollander L Ingeborgh van den Born B Jeroen Klevering

Invest Ophthalmol Vis Sci 2014 May 29;55(6):3939-53. Epub 2014 May 29.

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

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May 2014

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Authors:
Koji M Nishiguchi Almudena Avila-Fernandez Ramon A C van Huet Marta Corton Raquel Pérez-Carro Esther Martín-Garrido María Isabel López-Molina Fiona Blanco-Kelly Lies H Hoefsloot Wendy A van Zelst-Stams Pedro J García-Ruiz Javier Del Val Silvio Alessandro Di Gioia B Jeroen Klevering Bart P C van de Warrenburg Carlos Vazquez Frans P M Cremers Blanca García-Sandoval Carel B Hoyng Rob W J Collin Carlo Rivolta Carmen Ayuso

Ophthalmology 2014 Aug 31;121(8):1620-7. Epub 2014 Mar 31.

Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain. Electronic address:

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August 2014

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Authors:
Ramon A C van Huet Alejandro Estrada-Cuzcano Eyal Banin Ygal Rotenstreich Stephanie Hipp Susanne Kohl Carel B Hoyng Anneke I den Hollander Rob W J Collin B Jeroen Klevering

Invest Ophthalmol Vis Sci 2013 Jul 12;54(7):4683-90. Epub 2013 Jul 12.

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

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July 2013

Next-generation genetic testing for retinitis pigmentosa.

Authors:
Kornelia Neveling Rob W J Collin Christian Gilissen Ramon A C van Huet Linda Visser Michael P Kwint Sabine J Gijsen Marijke N Zonneveld Nienke Wieskamp Joep de Ligt Anna M Siemiatkowska Lies H Hoefsloot Michael F Buckley Ulrich Kellner Kari E Branham Anneke I den Hollander Alexander Hoischen Carel Hoyng B Jeroen Klevering L Ingeborgh van den Born Joris A Veltman Frans P M Cremers Hans Scheffer

Hum Mutat 2012 Jun 19;33(6):963-72. Epub 2012 Mar 19.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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June 2012

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Authors:
Alejandro Estrada-Cuzcano Kornelia Neveling Susanne Kohl Eyal Banin Ygal Rotenstreich Dror Sharon Tzipora C Falik-Zaccai Stephanie Hipp Ronald Roepman Bernd Wissinger Stef J F Letteboer Dorus A Mans Ellen A W Blokland Michael P Kwint Sabine J Gijsen Ramon A C van Huet Rob W J Collin H Scheffer Joris A Veltman Eberhart Zrenner Anneke I den Hollander B Jeroen Klevering Frans P M Cremers

Am J Hum Genet 2012 Jan 15;90(1):102-9. Epub 2011 Dec 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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January 2012

Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.

Authors:
Dženita Smailhodzic Monika Fleckenstein Thomas Theelen Camiel J F Boon Ramon A C van Huet Johannes P H van de Ven Anneke I Den Hollander Steffen Schmitz-Valckenberg Carel B Hoyng Bernhard H F Weber Frank G Holz B Jeroen Klevering

Invest Ophthalmol Vis Sci 2011 Nov 21;52(12):8908-18. Epub 2011 Nov 21.

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

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November 2011