Arthur A B Bergen

Arthur A B Bergen

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Arthur A B Bergen

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Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Cornea 2019 Jun;38(6):718-722

Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/ICO.0000000000001828DOI Listing
June 2019

Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.

Lipids Health Dis 2019 Jan 5;18(1). Epub 2019 Jan 5.

Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, D-32545, Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1186/s12944-018-0943-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320597PMC
January 2019

Amyloid-beta and phosphorylated tau in post-mortem Alzheimer's disease retinas.

Acta Neuropathol Commun 2018 12 28;6(1):147. Epub 2018 Dec 28.

Department of Pathology, Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s40478-018-0650-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309096PMC
December 2018

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Retina 2017 Jan;37(1):161-172

*Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands; †The Rotterdam Eye Hospital, Rotterdam, the Netherlands; ‡Rivas Zorggroep, Vianen, the Netherlands; §Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands; ¶The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, the Netherlands; and **Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000001127DOI Listing
January 2017

Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients.

Medicine (Baltimore) 2016 May;95(18):e3457

From the Department of Ophthalmology (EHCVD, DEMD, MV, GPML, MJDL, CJFB, PAVDV), Leiden University Medical Center, Leiden; Department of Ophthalmology (AABB); Department of Clinical Genetics (AABB), Academic Medical Center; Department of Clinical and Molecular Ophthalmogenetics (AABB), The Netherlands Institute for Neurosciences/Royal Netherlands Academy of Arts and Sciences, Amsterdam; and Department of Medical Oncology (EWK), Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/MD.0000000000003457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863761PMC
May 2016

Correspondence.

Retina 2015 Sep;35(9):e57-8

*Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands †The Rotterdam Eye Hospital, Rotterdam, the Netherlands ‡Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands §Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, the Netherlands ¶Department of Ophthalmology, Academic Medical Centre, Amsterdam, the Netherlands **Bartiméus Institute for the Visually Impaired, Zeist, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000000696DOI Listing
September 2015

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

J Invest Dermatol 2014 Sep 16;134(9):2331-2338. Epub 2014 Apr 16.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153696
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http://dx.doi.org/10.1038/jid.2014.191DOI Listing
September 2014

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nat Commun 2014 Sep 22;5:4883. Epub 2014 Sep 22.

Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.

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http://eprints.soton.ac.uk/369296/1/ncomms5883.pdf
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http://www.nature.com/doifinder/10.1038/ncomms5883
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http://dx.doi.org/10.1038/ncomms5883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199103PMC
September 2014

Gene expression and functional annotation of the human and mouse choroid plexus epithelium.

PLoS One 2013 31;8(12):e83345. Epub 2013 Dec 31.

Department of Clinical and Molecular Ophthalmogenetics, the Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands ; Department of Ophthalmology, Academic Medical Centre (AMC), Amsterdam, The Netherlands ; Department of Clinical Genetics, Academic Medical Centre (AMC), Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083345PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877019PMC
August 2014

Human ciliary epithelia do express genes with retinal progenitor cell characteristics in vivo.

Exp Eye Res 2014 Apr 4;121:41. Epub 2014 Feb 4.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), 1105BA Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre (AMC), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.exer.2014.01.020DOI Listing
April 2014

ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.

Proc Natl Acad Sci U S A 2013 Dec 25;110(50):20206-11. Epub 2013 Nov 25.

Divisions of Molecular Oncology and Gene Regulation, Netherlands Cancer Institute, 1066 CX, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1319582110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864344PMC
December 2013

The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology.

Prog Retin Eye Res 2013 Nov 19;37:31-67. Epub 2013 Sep 19.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.preteyeres.2013.09.001DOI Listing
November 2013

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Ophthalmology 2013 Oct 25;120(10):2072-81. Epub 2013 May 25.

Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands; MOVE Research Institute, Faculty of Human Movement Sciences, VU University, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.03.002DOI Listing
October 2013

Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration.

Invest Ophthalmol Vis Sci 2013 Oct 3;54(10):6489-501. Epub 2013 Oct 3.

Ocular Angiogenesis Group, Departments of Ophthalmology and Cell Biology and Histology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.13-12374DOI Listing
October 2013

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

Invest Ophthalmol Vis Sci 2013 Oct 23;54(10):6973-81. Epub 2013 Oct 23.

Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.13-12293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808102PMC
October 2013

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Ophthalmology 2013 Apr 3;120(4):809-20. Epub 2013 Jan 3.

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

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http://dx.doi.org/10.1016/j.ophtha.2012.09.057DOI Listing
April 2013

Gene expression and functional annotation of the human ciliary body epithelia.

PLoS One 2012 18;7(9):e44973. Epub 2012 Sep 18.

Department of Clinical and Molecular Ophthalmogenetics, the Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://repub.eur.nl/pub/38694/1229.pdf
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http://dx.plos.org/10.1371/journal.pone.0044973
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0044973PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445623PMC
March 2013

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Authors:
Virginie J M Verhoeven Pirro G Hysi Robert Wojciechowski Qiao Fan Jeremy A Guggenheim René Höhn Stuart MacGregor Alex W Hewitt Abhishek Nag Ching-Yu Cheng Ekaterina Yonova-Doing Xin Zhou M Kamran Ikram Gabriëlle H S Buitendijk George McMahon John P Kemp Beate St Pourcain Claire L Simpson Kari-Matti Mäkelä Terho Lehtimäki Mika Kähönen Andrew D Paterson S Mohsen Hosseini Hoi Suen Wong Liang Xu Jost B Jonas Olavi Pärssinen Juho Wedenoja Shea Ping Yip Daniel W H Ho Chi Pui Pang Li Jia Chen Kathryn P Burdon Jamie E Craig Barbara E K Klein Ronald Klein Toomas Haller Andres Metspalu Chiea-Chuen Khor E-Shyong Tai Tin Aung Eranga Vithana Wan-Ting Tay Veluchamy A Barathi Peng Chen Ruoying Li Jiemin Liao Yingfeng Zheng Rick T Ong Angela Döring David M Evans Nicholas J Timpson Annemieke J M H Verkerk Thomas Meitinger Olli Raitakari Felicia Hawthorne Tim D Spector Lennart C Karssen Mario Pirastu Federico Murgia Wei Ang Aniket Mishra Grant W Montgomery Craig E Pennell Phillippa M Cumberland Ioana Cotlarciuc Paul Mitchell Jie Jin Wang Maria Schache Sarayut Janmahasatian Sarayut Janmahasathian Robert P Igo Jonathan H Lass Emily Chew Sudha K Iyengar Theo G M F Gorgels Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Zoran Vatavuk James F Wilson Brian Fleck Tanja Zeller Alireza Mirshahi Christian Müller André G Uitterlinden Fernando Rivadeneira Johannes R Vingerling Albert Hofman Ben A Oostra Najaf Amin Arthur A B Bergen Yik-Ying Teo Jugnoo S Rahi Veronique Vitart Cathy Williams Paul N Baird Tien-Yin Wong Konrad Oexle Norbert Pfeiffer David A Mackey Terri L Young Cornelia M van Duijn Seang-Mei Saw Joan E Bailey-Wilson Dwight Stambolian Caroline C Klaver Christopher J Hammond

Nat Genet 2013 Mar 10;45(3):314-8. Epub 2013 Feb 10.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740568PMC
March 2013

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

Am J Med Genet A 2012 Nov 17;158A(11):2931-4. Epub 2012 Sep 17.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35611DOI Listing
November 2012

Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane.

Exp Eye Res 2012 Nov 3;104:59-64. Epub 2012 Oct 3.

Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.exer.2012.09.009DOI Listing
November 2012

Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model.

Arterioscler Thromb Vasc Biol 2011 Dec 6;31(12):2806-12. Epub 2011 Oct 6.

Division of Cardiology and Cardiovascular Research Laboratory, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1161/ATVBAHA.111.237420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3227394PMC
December 2011

Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum.

J Mol Med (Berl) 2011 Nov 2;89(11):1125-35. Epub 2011 Jul 2.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), an Institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00109-011-0782-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195265PMC
November 2011

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Graefes Arch Clin Exp Ophthalmol 2011 Oct 25;249(10):1527-35. Epub 2011 Aug 25.

Department of Ophthalmology, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00417-011-1789-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178018PMC
October 2011

Ultrastructural localization and expression of TRPM1 in the human retina.

Invest Ophthalmol Vis Sci 2011 Oct 21;52(11):8356-62. Epub 2011 Oct 21.

Departments of Retinal Signal Processing, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.11-7575DOI Listing
October 2011

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Ophthalmology 2011 Jan;118(1):160-167.e1-3

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2010.04.022DOI Listing
January 2011

Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.

Ophthalmology 2010 Jul 9;117(7):1415-22. Epub 2010 Apr 9.

Department of Clinical and Molecular Ophthalmogenetics, the Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2009.11.044DOI Listing
July 2010

Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum.

J Mol Med (Berl) 2010 May 23;88(5):467-75. Epub 2010 Feb 23.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Meibergdreef 47, 1105 BA, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00109-010-0596-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859158PMC
May 2010

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.

Am J Med Genet A 2010 Apr;152A(4):1049-58

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33329
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http://dx.doi.org/10.1002/ajmg.a.33329DOI Listing
April 2010

The complement component 5 gene and age-related macular degeneration.

Ophthalmology 2010 Mar 22;117(3):500-11. Epub 2009 Dec 22.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2009.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830367PMC
March 2010

A new strategy to identify and annotate human RPE-specific gene expression.

PLoS One 2010 Mar 9;5(5):e9341. Epub 2010 Mar 9.

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009341PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866542PMC
March 2010

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

Genet Med 2009 Dec;11(12):852-8

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181c00a96
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http://dx.doi.org/10.1097/GIM.0b013e3181c00a96DOI Listing
December 2009

Functional annotation of the human retinal pigment epithelium transcriptome.

BMC Genomics 2009 Apr 20;10:164. Epub 2009 Apr 20.

Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience (NIN), Amsterdam, the Netherlands.

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http://dx.doi.org/10.1186/1471-2164-10-164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679759PMC
April 2009

Complement component C3 and risk of age-related macular degeneration.

Ophthalmology 2009 Mar 24;116(3):474-480.e2. Epub 2009 Jan 24.

Department of Epidemiology and Biostatistics, Rotterdam, Erasmus Medical Centre, the Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2008.09.055DOI Listing
March 2009

The SERPING1 gene and age-related macular degeneration.

Lancet 2008 Nov 6;372(9652):1788-9. Epub 2008 Oct 6.

Department of Ophthalmology and Department of Epidemiology and Biostatistics, Erasmus Medical Centre, Rotterdam 3000CA, Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S014067360861349
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http://dx.doi.org/10.1016/S0140-6736(08)61349-5DOI Listing
November 2008

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Mol Vis 2008 May 7;14:836-40. Epub 2008 May 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, TheNetherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375324PMC
May 2008

Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.

Invest Ophthalmol Vis Sci 2008 Jan;49(1):364-71

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.07-0656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754756PMC
January 2008

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Mol Vis 2008 Jan 24;14:118-24. Epub 2008 Jan 24.

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2254972PMC
January 2008

Ischemic preconditioning alters the pattern of gene expression changes in response to full retinal ischemia.

Mol Vis 2007 Oct 5;13:1892-901. Epub 2007 Oct 5.

Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.

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October 2007

Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane.

Mol Vis 2007 Sep 10;13:1608-17. Epub 2007 Sep 10.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Meibergdreef, Amsterdam, The Netherlands.

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September 2007

GAP-43 expression is upregulated in retinal ganglion cells after ischemia/reperfusion-induced damage.

Exp Eye Res 2007 May 27;84(5):858-67. Epub 2007 Jan 27.

Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience (NIN), KNAW, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S001448350700027
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http://dx.doi.org/10.1016/j.exer.2007.01.006DOI Listing
May 2007

ABCC6 and pseudoxanthoma elasticum.

Pflugers Arch 2007 Feb 8;453(5):685-91. Epub 2006 Apr 8.

Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00424-005-0039-0DOI Listing
February 2007

Transfer of lens-specific transcripts to retinal RNA samples may underlie observed changes in crystallin-gene transcript levels after ischemia.

Mol Vis 2007 Feb 8;13:220-8. Epub 2007 Feb 8.

Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience-KNAW, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610369PMC
February 2007

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Eur J Hum Genet 2006 Sep 31;14(9):986-90. Epub 2006 May 31.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201671DOI Listing
September 2006

Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

J Invest Dermatol 2006 Apr;126(4):704-5

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.jid.5700129DOI Listing
April 2006

VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.

Mol Vis 2005 Aug 4;11:582-6. Epub 2005 Aug 4.

Division of Development, Aging and Genetic diseases of the Eye, Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, The Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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August 2005

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

Hum Mol Genet 2005 Jul 11;14(13):1763-73. Epub 2005 May 11.

Department of Molecualr and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute (NORI), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddi183DOI Listing
July 2005

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

Genet Test 2004 ;8(3):292-300

Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1089/gte.2004.8.292DOI Listing
April 2005

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.

Int J Cardiol 2005 Apr;100(3):389-93

Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ijcard.2004.07.012DOI Listing
April 2005

In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation.

Ultrasound Med Biol 2004 Aug;30(8):1041-8

Department of Physiology, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2004.06.004DOI Listing
August 2004

Does autosomal dominant pseudoxanthoma elasticum exist?

Am J Med Genet A 2004 May;126A(4):403-12

The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20632DOI Listing
May 2004

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

Surv Ophthalmol 2003 Jul-Aug;48(4):424-38

Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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October 2003

Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

Biochem Biophys Res Commun 2003 Aug;308(2):263-9

Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary.

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http://dx.doi.org/10.1016/s0006-291x(03)01349-4DOI Listing
August 2003

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

Invest Ophthalmol Vis Sci 2003 May;44(5):1824-9

Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Art and Sciences (KNAW), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.02-0981DOI Listing
May 2003

Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.

Graefes Arch Clin Exp Ophthalmol 2002 Jun 23;240(6):468-74. Epub 2002 Apr 23.

Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00417-002-0455-1DOI Listing
June 2002

MRP6 (ABCC6) detection in normal human tissues and tumors.

Lab Invest 2002 Apr;82(4):515-8

Department of Pathology, Free University Medical Center, Amsterdam, The Netherlands.

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April 2002