Publications by authors named "Marijke N Zonneveld"

19Publications

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Authors:
Karin W Littink Maria M van Genderen Mary J van Schooneveld Linda Visser Frans C C Riemslag Jan E E Keunen Bjorn Bakker Marijke N Zonneveld Anneke I den Hollander Frans P M Cremers L Ingeborgh van den Born

Ophthalmology 2012 Sep 3;119(9):1899-906. Epub 2012 May 3.

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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September 2012

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

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Authors:
Anna M Siemiatkowska Kentar Arimadyo Luminita M Moruz Galuh D N Astuti Marta de Castro-Miro Marijke N Zonneveld Tim M Strom Ilse J de Wijs Lies H Hoefsloot Sultana M H Faradz Frans P M Cremers Anneke I den Hollander Rob W J Collin

Mol Vis 2011 18;17:3013-24. Epub 2011 Nov 18.

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

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April 2012

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Authors:
Rıza Köksal Ozgül Anna M Siemiatkowska Didem Yücel Connie A Myers Rob W J Collin Marijke N Zonneveld Avigail Beryozkin Eyal Banin Carel B Hoyng L Ingeborgh van den Born Ron Bose Wei Shen Dror Sharon Frans P M Cremers B Jeroen Klevering Anneke I den Hollander Joseph C Corbo

Am J Hum Genet 2011 Aug;89(2):253-64

Institute of Child Health and Metabolism Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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August 2011

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

Authors:
Rob W J Collin L Ingeborgh van den Born B Jeroen Klevering Marta de Castro-Miró Karin W Littink Kentar Arimadyo Maleeha Azam Volkan Yazar Marijke N Zonneveld Codrut C Paun Anna M Siemiatkowska Tim M Strom Jayne Y Hehir-Kwa Hester Y Kroes Jan-Tjeerd H N de Faber Mary J van Schooneveld John R Heckenlively Carel B Hoyng Anneke I den Hollander Frans P M Cremers

Invest Ophthalmol Vis Sci 2011 Apr 6;52(5):2227-39. Epub 2011 Apr 6.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands.

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April 2011

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Authors:
Karin W Littink Robert K Koenekoop L Ingeborgh van den Born Rob W J Collin Luminita Moruz Joris A Veltman Susanne Roosing Marijke N Zonneveld Amer Omar Mahshad Darvish Irma Lopez Hester Y Kroes Maria M van Genderen Carel B Hoyng Klaus Rohrschneider Mary J van Schooneveld Frans P M Cremers Anneke I den Hollander

Invest Ophthalmol Vis Sci 2010 Nov 16;51(11):5943-51. Epub 2010 Jun 16.

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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November 2010

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

Authors:
Karin W Littink L Ingeborgh van den Born Robert K Koenekoop Rob W J Collin Marijke N Zonneveld Ellen A W Blokland Hayat Khan Thomas Theelen Carel B Hoyng Frans P M Cremers Anneke I den Hollander B Jeroen Klevering

Ophthalmology 2010 Oct;117(10):2026-33, 2033.e1-7

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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October 2010

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Authors:
Dikla Bandah-Rozenfeld Karin W Littink Tamar Ben-Yosef Tim M Strom Itay Chowers Rob W J Collin Anneke I den Hollander L Ingeborgh van den Born Marijke N Zonneveld Saul Merin Eyal Banin Frans P M Cremers Dror Sharon

Invest Ophthalmol Vis Sci 2010 Sep 7;51(9):4387-94. Epub 2010 Apr 7.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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September 2010

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Authors:
Hemant Khanna Erica E Davis Carlos A Murga-Zamalloa Alejandro Estrada-Cuzcano Irma Lopez Anneke I den Hollander Marijke N Zonneveld Mohammad I Othman Naushin Waseem Christina F Chakarova Cecilia Maubaret Anna Diaz-Font Ian MacDonald Donna M Muzny David A Wheeler Margaret Morgan Lora R Lewis Clare V Logan Perciliz L Tan Michael A Beer Chris F Inglehearn Richard A Lewis Samuel G Jacobson Carsten Bergmann Philip L Beales Tania Attié-Bitach Colin A Johnson Edgar A Otto Shomi S Bhattacharya Friedhelm Hildebrandt Richard A Gibbs Robert K Koenekoop Anand Swaroop Nicholas Katsanis

Nat Genet 2009 Jun 10;41(6):739-45. Epub 2009 May 10.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA.

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June 2009

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

Authors:
Rob W J Collin Karin W Littink B Jeroen Klevering L Ingeborgh van den Born Robert K Koenekoop Marijke N Zonneveld Ellen A W Blokland Tim M Strom Carel B Hoyng Anneke I den Hollander Frans P M Cremers

Am J Hum Genet 2008 Nov 30;83(5):594-603. Epub 2008 Oct 30.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, the Netherlands.

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November 2008

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

Authors:
Anneke I den Hollander Irma Lopez Suzanne Yzer Marijke N Zonneveld Irene M Janssen Tim M Strom Jayne Y Hehir-Kwa Joris A Veltman Maarten L Arends Thomas Meitinger Maria A Musarella L Ingeborgh van den Born Gerald A Fishman Irene H Maumenee Klaus Rohrschneider Frans P M Cremers Robert K Koenekoop

Invest Ophthalmol Vis Sci 2007 Dec;48(12):5690-8

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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December 2007

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Authors:
Suzanne Yzer L Ingeborgh van den Born Marijke N Zonneveld Irma Lopez Radha Ayyagari Leonard Teye-Botchway Luisa Mota-Vieira Frans P M Cremers Robert K Koenekoop

Mol Vis 2007 Aug 31;13:1568-72. Epub 2007 Aug 31.

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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August 2007

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Authors:
Valeska Frank Anneke I den Hollander Nadina Ortiz Brüchle Marijke N Zonneveld Gudrun Nürnberg Christian Becker Gabriele Du Bois Heide Kendziorra Susanne Roosing Jan Senderek Peter Nürnberg Frans P M Cremers Klaus Zerres Carsten Bergmann

Hum Mutat 2008 Jan;29(1):45-52

Department of Human Genetics, RWTH Aachen University, Aachen, Germany.

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January 2008

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Authors:
Camiel J F Boon B Jeroen Klevering Anneke I den Hollander Marijke N Zonneveld Thomas Theelen Frans P M Cremers Carel B Hoyng

Arch Ophthalmol 2007 Aug;125(8):1100-6

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

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August 2007

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

Authors:
Anneke I den Hollander Robert K Koenekoop Moin D Mohamed Heleen H Arts Karsten Boldt Katherine V Towns Tina Sedmak Monika Beer Kerstin Nagel-Wolfrum Martin McKibbin Sharola Dharmaraj Irma Lopez Lenka Ivings Grange A Williams Kelly Springell C Geoff Woods Hussain Jafri Yasmin Rashid Tim M Strom Bert van der Zwaag Ilse Gosens Ferry F J Kersten Erwin van Wijk Joris A Veltman Marijke N Zonneveld Sylvia E C van Beersum Irene H Maumenee Uwe Wolfrum Michael E Cheetham Marius Ueffing Frans P M Cremers Chris F Inglehearn Ronald Roepman

Nat Genet 2007 Jul 3;39(7):889-95. Epub 2007 Jun 3.

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

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July 2007

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

Authors:
Anneke I den Hollander Robert K Koenekoop Suzanne Yzer Irma Lopez Maarten L Arends Krysta E J Voesenek Marijke N Zonneveld Tim M Strom Thomas Meitinger Han G Brunner Carel B Hoyng L Ingeborgh van den Born Klaus Rohrschneider Frans P M Cremers

Am J Hum Genet 2006 Sep 11;79(3):556-61. Epub 2006 Jul 11.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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September 2006

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Authors:
Suzanne Yzer Bart P Leroy Elfride De Baere Thomy J de Ravel Marijke N Zonneveld Krysta Voesenek Ulrich Kellner Jose P Martinez Ciriano Jan-Tjeerd H N de Faber Klaus Rohrschneider Ronald Roepman Anneke I den Hollander Johannes R Cruysberg Françoise Meire Ingele Casteels Norka G van Moll-Ramirez Rando Allikmets L Ingeborgh van den Born Frans P M Cremers

Invest Ophthalmol Vis Sci 2006 Mar;47(3):1167-76

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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March 2006

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

Authors:
José A J M van den Hurk Penny Rashbass Ronald Roepman Jason Davis Krysta E J Voesenek Maarten L Arends Marijke N Zonneveld Marga H G van Roekel Karen Cameron Klaus Rohrschneider John R Heckenlively Robert K Koenekoop Carel B Hoyng Frans P M Cremers Anneke I den Hollander

Mol Vis 2005 Apr 15;11:263-73. Epub 2005 Apr 15.

Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands.

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April 2005

CRB1 mutation spectrum in inherited retinal dystrophies.

Authors:
Anneke I den Hollander Jason Davis Saskia D van der Velde-Visser Marijke N Zonneveld Chiara O Pierrottet Robert K Koenekoop Ulrich Kellner L Ingeborgh van den Born John R Heckenlively Carel B Hoyng Penny A Handford Ronald Roepman Frans P M Cremers

Hum Mutat 2004 Nov;24(5):355-69

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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November 2004