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Arthur Bergen

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Camiel J F Boon; Ralph J Florijn; Jan E E Keunen; Frans C Riemslag; L Ingeborgh Van Den Born; Arthur A B Bergen; Judith C Booij; Linda Visser; Mary J van Schooneveld
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Theo G M F Gorgels; Johannes D Meeldijk; Suzan T M Nillesen; Peter Teeling; Allard C van der Wal; Toin H van Kuppevelt; Arthur A B Bergen
Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane.
Judith M A Verhagen; Monique Williams; Cokkie H Wouters; Arthur A B Bergen; Jan G Huijmans; Rutger L J van Ruyven; Alice S Brooks
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

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2013: Camiel J F Boon; Ralph J Florijn; Jan E E Keunen; Frans C Riemslag; L Ingeborgh Van Den Born; Arthur A B Bergen; Judith C Booij; Linda Visser; Mary J van Schooneveld
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Ophthalmology 2013;120(4):809-20.
2012: Theo G M F Gorgels; Johannes D Meeldijk; Suzan T M Nillesen; Peter Teeling; Allard C van der Wal; Toin H van Kuppevelt; Arthur A B Bergen
Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane.
Experimental eye research 2012;104():59-64.
2012: Judith M A Verhagen; Monique Williams; Cokkie H Wouters; Arthur A B Bergen; Jan G Huijmans; Rutger L J van Ruyven; Alice S Brooks
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
American journal of medical genetics. Part A 2012;158A(11):2931-4.
2012: Alberta A H J Thiadens; L Ingeborgh Van Den Born; Maria M van Genderen; Norka van Moll-Ramirez; Mary J van Schooneveld; Renate C Zekveld-Vroon; T My Lan Phan; Jan Willem R Pott; Susanne Roosing; Arthur A B Bergen; Camiel J F Boon; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Caroline C W Klaver; Bart P Leroy; Andrew J Lotery
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012;119(4):819-26.
2012: Neal S Peachey; Jillian N Pearring; Nikita Pozdeyev; Thomas A Ray; Huanan Ren; Lucy B Rowe; Huibert Jan Simonsz; T Sjoerdsma; Gianluca Tosini; Elias I Traboulsi; Maria van Genderen; Kenkichi Baba; Arthur A B Bergen; David G Birch; Pasano Bojang; Susana Contreras-Alcantara; Allison Dorfman; Ralph Florijn; Andrew F X Goldberg; P Michael Iuvone; Maarten Kamermans; Robert K Koenekoop; Pierre Lachapelle; Irma Lopez; Maureen A McCall; Patsy M Nishina; Ronald G Gregg
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
American journal of human genetics 2012;90(2):331-9.
2012: Sarah F Janssen; Martijn Nagtegaal; Jacoline B ten Brink; Peter J van der Spek; Koen Bossers; Anke H W Essing; Theo G M F Gorgels; Nomdo M Jansonius; Arthur A B Bergen
Gene expression and functional annotation of the human ciliary body epithelia.
PloS one 2012;7(9):e44973.
2012: Dominique C Baas; Rando Allikmets; Paulus T V M de Jong; Michael Dean; Lars G Fritsche; Theo G M F Gorgels; Gregory S Hageman; Lintje Ho; Albert Hofman; Caroline C W Klaver; Bobby P C Koeleman; Joanna E Merriam; Michael W T Tanck; Jacoline B ten Brink; André G Uitterlinden; Cornelia M van Duijn; Ruben van het Slot; Johannes R Vingerling; Bernhard H F Weber; Arthur A B Bergen
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.
Molecular vision 2012;18():657-74.
2011: Imran N Mungrue; Christoph Rau; Yucheng Yao; Peng Zhao; Arthur A B Bergen; Kristina I Boström; Thomas A Drake; Theo G M F Gorgels; Jocelyn V Havel; W Robb MacLellan; Haijin Meng; Aldons J Lusis
Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model.
Arteriosclerosis, thrombosis, and vascular biology 2011;31(12):2806-12.
2011: Theo G M F Gorgels; Marjolein Herfs; Boris T Ivandic; Toshiro Sato; Reinier O Schlingemann; Frank Schoensiegel; Leon J Schurgers; Cees Vermeer; Daniëlle Versteeg; Jan H Waarsing; Arthur A B Bergen
Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum.
Journal of molecular medicine (Berlin, Germany) 2011;89(11):1125-35.
2011: Alberta A H J Thiadens; A G Tjiam; L Ingeborgh Van Den Born; Frans C Riemslag; Gyan G Soerjoesing; Arthur A B Bergen; Anneke I den Hollander; Ralph J Florijn; Caroline C W Klaver
Clinical course of cone dystrophy caused by mutations in the RPGR gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2011;249(10):1527-35.
2011: Jan Klooster; Jacoline B ten Brink; Unga Unmehopa; Arthur A B Bergen; Joyce Blokker; Kees Fluiter; Maarten Kamermans
Ultrastructural localization and expression of TRPM1 in the human retina.
Investigative ophthalmology & visual science 2011;52(11):8356-62.
2011: Judith C Booij; Arne Bakker; Jamilia Kulumbetova; Youssef Moutaoukil; Bert Smeets; Joke Verheij; Hester Y Kroes; Caroline C W Klaver; Mary J van Schooneveld; Arthur A B Bergen; Ralph J Florijn
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Ophthalmology 2011;118(1):160-167.e1-3.
2010: Judith C Booij; Camiel J F Boon; Mary J van Schooneveld; Jacoline B ten Brink; Arne Bakker; Paulus T V M de Jong; Carel B Hoyng; Arthur A B Bergen; Caroline C W Klaver
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Ophthalmology 2010;117(7):1415-22.
2010: Wishal D Ramdas; Leonieke M E van Koolwijk; M Kamran Ikram; Nomdo M Jansonius; Paulus T V M de Jong; Arthur A B Bergen; Aaron Isaacs; Najaf Amin; Yurii Aulchenko; Roger Wolfs; Albert Hofman; Fernando Rivadeneira; Ben A Oostra; Andre G Uitterlinden; Pirro Hysi; Christopher J Hammond; Hans G Lemij; Johannes Vingerling; Caroline C W Klaver; Cornelia M van Duijn
A genome-wide association study of optic disc parameters.
PLoS genetics 2010;6(6):e1000978.
2010: Theo G M F Gorgels; Jan H Waarsing; Anneke de Wolf; Jacoline B ten Brink; Willem J P Loves; Arthur A B Bergen
Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum.
Journal of molecular medicine (Berlin, Germany) 2010;88(5):467-75.
2010: Astrid S Plomp; Johan Toonstra; Arthur A B Bergen; Marijke R van Dijk; Paulus T V M de Jong
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.
American journal of medical genetics. Part A 2010;152A(4):1049-58.
2010: Dominique C Baas; Lintje Ho; Sarah Ennis; Joanna E Merriam; Michael W T Tanck; André G Uitterlinden; Paulus T V M de Jong; Angela J Cree; Helen L Griffiths; Fernando Rivadeneira; Albert Hofman; Cornelia van Duijn; R Theodore Smith; Gaetano R Barile; Theo G M F Gorgels; Johannes Vingerling; Caroline C W Klaver; Andrew J Lotery; Rando Allikmets; Arthur A B Bergen
The complement component 5 gene and age-related macular degeneration.
Ophthalmology 2010;117(3):500-11.
2010: Dominique C Baas; Dominiek D G Despriet; Theo G M F Gorgels; Julie Bergeron-Sawitzke; André G Uitterlinden; Albert Hofman; Cornelia M van Duijn; Joanna E Merriam; R Theodore Smith; Gaetano R Barile; Jacoline B ten Brink; Johannes Vingerling; Caroline C W Klaver; Rando Allikmets; Michael Dean; Arthur A B Bergen
The ERCC6 gene and age-related macular degeneration.
PloS one 2010;5(11):e13786.
2010: Judith C Booij; Jacoline B ten Brink; Sigrid M A Swagemakers; Annemieke J M H Verkerk; Anke H W Essing; Peter van der Spek; Arthur A B Bergen
A new strategy to identify and annotate human RPE-specific gene expression.
PloS one 2010;5(5):e9341.
2010: J C Booij; D C Baas; J Beisekeeva; Theo G M F Gorgels; Arthur A B Bergen
The dynamic nature of Bruch's membrane.
Progress in retinal and eye research 2010;29(1):1-18.
2009: Astrid S Plomp; Arthur A B Bergen; Ralph J Florijn; Sharon F Terry; Johan Toonstra; Marijke R van Dijk; Paulus T V M de Jong
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(12):852-8.
2009: Maria M van Genderen; Mieke M C Bijveld; Yvonne B Claassen; Ralph J Florijn; Jillian N Pearring; Francoise M Meire; Maureen A McCall; Frans C C Riemslag; Ronald G Gregg; Arthur A B Bergen; Maarten Kamermans
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
American journal of human genetics 2009;85(5):730-6.
2009: Dominiek D G Despriet; C.M. Duijn; Ben A Oostra; André G Uitterlinden; Albert Hofman; Alan F Wright; Jacoline B ten Brink; Arne Bakker; Paulus T V M de Jong; Johannes Vingerling; Arthur A B Bergen; Caroline C W Klaver
Complement component C3 and risk of age-related macular degeneration.
Ophthalmology 2009;116(3):474-480.e2.
2009: Judith C Booij; Simone van Soest; Sigrid M A Swagemakers; Anke H W Essing; Annemieke J M H Verkerk; Peter van der Spek; Theo G M F Gorgels; Arthur A B Bergen
Functional annotation of the human retinal pigment epithelium transcriptome.
BMC genomics 2009;10():164.
2008: John Neidhardt; Esther Glaus; Birgit Lorenz; Christian Netzer; Yün Li; Maria Schambeck; Mariana Wittmer; Silke Feil; Renate Kirschner-Schwabe; Thomas Rosenberg; Frans P M Cremers; Arthur A B Bergen; Daniel Barthelmes; Husnia Baraki; Fabian Schmid; Gaby Tanner; Johannes C Fleischhauer; Ulrike Orth; Christian Becker; Erika Wegscheider; Gudrun Nürnberg; Peter Nürnberg; Hanno Jörn Bolz; Andreas Gal; Wolfgang Berger
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Molecular vision 2008;14():1081-93.
2008: Egbert J W Redeker; Annette S H de Visser; Arthur A B Bergen; marcel mannens
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
Molecular vision 2008;14():836-40.
2008: Astrid S Plomp; Ralph J Florijn; Jacoline B ten Brink; Bruce Castle; Helen Kingston; Ana Martín-Santiago; Theo G M F Gorgels; Paulus T V M de Jong; Arthur A B Bergen
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Molecular vision 2008;14():118-24.
2008: Dominiek D G Despriet; Arthur A B Bergen; Joanna E Merriam; Jana Zernant; Gaetano R Barile; R Theodore Smith; Irene Barbazetto; Simone van Soest; Arne Bakker; Paulus T V M de Jong; Rando Allikmets; Caroline C W Klaver
Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.
Investigative ophthalmology & visual science 2008;49(1):364-71.
2007: Frederike Dijk; Arthur A B Bergen; Willem Kamphuis
GAP-43 expression is upregulated in retinal ganglion cells after ischemia/reperfusion-induced damage.
Experimental eye research 2007;84(5):858-67.
2007: Theo G M F Gorgels; Ingrid van der Pluijm; Renata M C Brandt; george garinis; Harry van Steeg; Gerard van den Aardweg; Gerard H Jansen; Jan M Ruijter; Arthur A B Bergen; Dirk van Norren; Jan H J Hoeijmakers; Gijsbertus T J van der Horst
Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome.
Molecular and cellular biology 2007;27(4):1433-41.
2007: Arthur A B Bergen; Astrid S Plomp; Xiaofeng Hu; Paulus T V M de Jong; Theo G M F Gorgels
ABCC6 and pseudoxanthoma elasticum.
Pflügers Archiv : European journal of physiology 2007;453(5):685-91.
2007: Willem Kamphuis; Frederike Dijk; Arthur A B Bergen
Ischemic preconditioning alters the pattern of gene expression changes in response to full retinal ischemia.
Molecular vision 2007;13():1892-901.
2007: Simone van Soest; Gerard M J de Wit; Anke H W Essing; Jacoline B ten Brink; Willem Kamphuis; Paulus T V M de Jong; Arthur A B Bergen
Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane.
Molecular vision 2007;13():1608-17.
2007: Willem Kamphuis; Frederike Dijk; Simone van Soest; Arthur A B Bergen
Global gene expression profiling of ischemic preconditioning in the rat retina.
Molecular vision 2007;13():1020-30.
2007: Willem Kamphuis; Frederike Dijk; Willem Kraan; Arthur A B Bergen
Transfer of lens-specific transcripts to retinal RNA samples may underlie observed changes in crystallin-gene transcript levels after ischemia.
Molecular vision 2007;13():220-8.
2006: Ralph J Florijn; Willem J P Loves; Liesbeth J J M Maillette de Buy Wenniger-Prick; marcel mannens; Nel Tijmes; Simon P Brooks; Alison J Hardcastle; Arthur A B Bergen
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.
European journal of human genetics : EJHG 2006;14(9):986-90.
2006: Dominiek D G Despriet; Caroline C W Klaver; Jacqueline C M Witteman; Arthur A B Bergen; Isabella Kardys; Moniek P M de Maat; Sharmila S Boekhoorn; Johannes Vingerling; Albert Hofman; Ben A Oostra; André G Uitterlinden; Theo Stijnen; C.M. Duijn; Paulus T V M de Jong
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration.
JAMA : the journal of the American Medical Association 2006;296(3):301-9.
2006: Andrew J Lotery; Dominique Baas; Caroline Ridley; Richard P O Jones; Caroline C W Klaver; Edwin Stone; Tomoyuki Nakamura; Andrew J Luff; Helen Griffiths; Tao Wang; Arthur A B Bergen; Dorothy Trump
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Human mutation 2006;27(6):568-74.
2006: Isabella Kardys; Caroline C W Klaver; Dominiek D G Despriet; Arthur A B Bergen; André G Uitterlinden; Albert Hofman; Ben A Oostra; C.M. Duijn; Paulus T V M de Jong; Jacqueline C M Witteman
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.
Journal of the American College of Cardiology 2006;47(8):1568-75.
2006: Arthur A B Bergen
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.
The Journal of investigative dermatology 2006;126(4):704-5.
2006: J F F Brinkmann; C P E Ottenheim; R H C Zegers; Paulus T V M de Jong; Arthur A B Bergen
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541.
Human genetics 2006;118(6):779.
2006: J F F Brinkmann; C P E Ottenheim; R H C Zegers; Paulus T V M de Jong; Arthur A B Bergen
Gene symbol: CYP1B1. Disease: Glaucoma, primary congenital. Accession #Hd0513.
Human genetics 2006;118(6):775.
2005: J C Booij; R J Florijn; Jacoline B ten Brink; Willem J P Loves; Françoise Meire; M J van Schooneveld; Paulus T V M de Jong; Arthur A B Bergen
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Journal of medical genetics 2005;42(11):e67.
2005: Theo G M F Gorgels; Xiaofeng Hu; George L Scheffer; Allard C van der Wal; Johan Toonstra; Paulus T V M de Jong; Toin H van Kuppevelt; Christiaan N Levelt; Anneke de Wolf; Willem J P Loves; Rik J Scheper; Ron Peek; Arthur A B Bergen
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.
Human molecular genetics 2005;14(13):1763-73.
2005: Jurgen J Wegman; Xiaofeng Hu; Hendra Tan; Arthur A B Bergen; Mieke D Trip; John J P Kastelein; Yvo M Smulders
Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.
International journal of cardiology 2005;100(3):389-93.
2005: Joep F F Brinkman; C P E Ottenheim; Leo A M S De Jong; R H C Zegers; Marc D De Smet; Paulus T V M de Jong; Arthur A B Bergen
VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.
Molecular vision 2005;11():582-6.
2004: Arthur A B Bergen; Astrid S Plomp; Theo G M F Gorgels; Paulus T V M de Jong
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Nederlands tijdschrift voor geneeskunde 2004;148(32):1586-9.
2004: Lilian Kornet; Arthur A B Bergen; Arnold P G Hoeks; Jacques P Cleutjens; Roelof-Jan Oostra; Mat J A P Daemen; Simone van Soest; Robert S Reneman
In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation.
Ultrasound in medicine & biology 2004;30(8):1041-8.
2004: Arthur A B Bergen; N J Leschot; C A A Hulsman; M D De Smet; Paulus T V M de Jong
[From gene to disease; primary open-angle glaucoma and three known genes: MYOC, CYP1B1 and OPTN].
Nederlands tijdschrift voor geneeskunde 2004;148(27):1343-4.
2004: Astrid S Plomp; Xiaofeng Hu; Paulus T V M de Jong; Arthur A B Bergen
Does autosomal dominant pseudoxanthoma elasticum exist?
American journal of medical genetics. Part A 2004;126A(4):403-12.
2004: Xiaofeng Hu; Astrid S Plomp; Theo G M F Gorgels; Jacoline Ten Brink; Willem J P Loves; marcel mannens; Paulus T V M de Jong; Arthur A B Bergen
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Genetic testing 2004;8(3):292-300.
2003: Janneke J C van Lith-Verhoeven; Bellinda van den Helm; August F Deutman; Arthur A B Bergen; Frans P M Cremers; Carel B Hoyng; Paulus T V M de Jong
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
Archives of ophthalmology 2003;121(10):1452-7.
2003: Emese Sinkó; Attila Iliás; Olga Ujhelly; László Homolya; George L Scheffer; Arthur A B Bergen; Balázs Sarkadi; András Váradi
Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.
Biochemical and biophysical research communications 2003;308(2):263-9.
2003: Xiaofeng Hu; Astrid S Plomp; Simone van Soest; Jan Wijnholds; Paulus T V M de Jong; Arthur A B Bergen
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
Survey of ophthalmology 2003;48(4):424-38.
2003: Xiaofeng Hu; Ron Peek; Astrid S Plomp; Jacoline B ten Brink; George Scheffer; Simone van Soest; Anita Leys; Paulus T V M de Jong; Arthur A B Bergen
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
Investigative ophthalmology & visual science 2003;44(5):1824-9.
2003: Xiaofeng Hu; Astrid S Plomp; Jan Wijnholds; Jacoline B ten Brink; Simone van Soest; L Ingeborgh Van Den Born; Anita Leys; Ron Peek; Paulus T V M de Jong; Arthur A B Bergen
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
European journal of human genetics : EJHG 2003;11(3):215-24.
2002: Mieke D Trip; Yvo M Smulders; Jurgen J Wegman; Xiaofeng Hu; Judith M Boer; Jacoline B ten Brink; Aeilko H Zwinderman; John J P Kastelein; Edith J M Feskens; Arthur A B Bergen
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
Circulation 2002;106(7):773-5.
2002: Caroline A A Hulsman; Paulus T V M de Jong; Marjolein Lettink; C.M. Duijn; Albert Hofman; Arthur A B Bergen
Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(6):468-74.
2002: George L Scheffer; Xiaofeng Hu; Adriana C L M Pijnenborg; Jan Wijnholds; Arthur A B Bergen; Rik J Scheper
MRP6 (ABCC6) detection in normal human tissues and tumors.
Laboratory investigation; a journal of technical methods and pathology 2002;82(4):515-8.
2002: Astrid S Plomp; Arthur A B Bergen; C A A Hulsman; Paulus T V M de Jong
[Changing perception of hereditary eye diseases].
Nederlands tijdschrift voor geneeskunde 2002;146(8):345-50.
2002: C A A Hulsman; J J M Willemse-Assink; Paulus T V M de Jong; Marjolein Lettink; L A Sandkuijl; Arthur A B Bergen
Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population.
Clinical genetics 2002;61(2):160-2.
2001: Paulus T V M de Jong; Arthur A B Bergen; Caroline C W Klaver; C.M. Duijn; J M Assink
Age-related maculopathy: its genetic basis.
Eye (London, England) 2001;15(Pt 3):396-400.
2000: Jacqueline J M Assink; E de Backer; Jacoline B ten Brink; T Kohno; Paulus T V M de Jong; Arthur A B Bergen; Françoise Meire
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
The British journal of ophthalmology 2000;84(7):682-6.
2000: Arthur A B Bergen; Astrid S Plomp; E J Schuurman; Sharon F Terry; M Breuning; H Dauwerse; J Swart; Marcel Kool; Simone van Soest; Frank Baas; Jacoline B ten Brink; Paulus T V M de Jong
Mutations in ABCC6 cause pseudoxanthoma elasticum.
Nature genetics 2000;25(2):228-31.
1999: Olivier Le Saux; Zsolt Urban; Harald HH Goring; Katalin Csiszar; F Michael Pope; A Richards; Ivonne Pasquali-Ronchetti; Sharon F Terry; Lionel Bercovitch; Mark Lebwohl; M Breuning; P van den Berg; Lilian Kornet; N Doggett; J Ott; Paulus T V M de Jong; Arthur A B Bergen; Charles D Boyd
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
Genomics 1999;62(1):1-10.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Alessandra Maugeri; MA van Driel; Dorien J R van De Pol; B Jeroen Klevering; F J van Haren; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; N Dahl; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
American journal of human genetics 1999;64(4):1024-35.
1999: Simone van Soest; M J van Rossem; John R Heckenlively; L Ingeborgh Van Den Born; T M de Meulemeester; S Vliex; Paulus T V M de Jong; EM Bleeker-Wagemakers; A Westerveld; Arthur A B Bergen
Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.
Cytogenetics and cell genetics 1999;84(1-2):22-7.
1999: Simone van Soest; A Westerveld; Paulus T V M de Jong; EM Bleeker-Wagemakers; Arthur A B Bergen
Retinitis pigmentosa: defined from a molecular point of view.
Survey of ophthalmology 1999;43(4):321-34.
1998: Arthur A B Bergen; Alfred J L G Pinckers
Reply to Inglehearn.
American journal of human genetics 1998;63(4):1232-4.
1998: U Schwahn; Steffen Lenzner; J Dong; Silke Feil; Bernd Hinzmann; Gerard van Duijnhoven; R Kirschner; Myriam Hemberger; Arthur A B Bergen; Thomas Rosenberg; Alfred J L G Pinckers; Reinald Fundele; André Rosenthal; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Nature genetics 1998;19(4):327-32.
1998: Esther van de Vosse; SM Walpole; A Nicolaou; Paola van der Bent - Klootwijk; A Cahn; Mark Vaudin; Mark T Ross; J Durham; R Pavitt; J Wilkinson; Darren Grafham; Arthur A B Bergen; Gert-Jan B van Ommen; J R W Yates; Johan T den Dunnen; Dorothy Trump
Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.
Genomics 1998;49(1):96-102.
1998: Frans P M Cremers; Dorien J R van De Pol; MA van Driel; Anneke I den Hollander; F J van Haren; Nine V A M Knoers; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; August F Deutman; Carel B Hoyng
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
Human molecular genetics 1998;7(3):355-62.
1997: Esther van de Vosse; Brunella Franco; Paola van der Bent - Klootwijk; Eugenio Montini; Ulrike Orth; A Hanauer; Nel Tijmes; Gert-Jan B van Ommen; Andrea Ballabio; Johan T den Dunnen; Arthur A B Bergen
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.
Human genetics 1997;101(2):235-7.
1997: Jacqueline J M Assink; Nel Tijmes; Jacoline B ten Brink; Roelof-Jan Oostra; F C Riemslag; Paulus T V M de Jong; Arthur A B Bergen
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.
American journal of human genetics 1997;61(4):934-9.
1997: Simone van Soest; J Swart; Nel Tijmes; L A Sandkuijl; J Rommers; Arthur A B Bergen
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.
Genome research 1997;7(8):830-4.
1997: Arthur A B Bergen; Alfred J L G Pinckers
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.
American journal of human genetics 1997;60(6):1468-73.
1996: Arthur A B Bergen; Jacoline B ten Brink; F Riemslag; E J Schuurman; Françoise Meire; Nel Tijmes; Paulus T V M de Jong
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
Journal of medical genetics 1996;33(10):869-72.
1996: R Roepman; Gerard van Duijnhoven; T Rosenberg; Alfred J L G Pinckers; L M Bleeker-Wagemakers; Arthur A B Bergen; J Post; A Beck; R Reinhardt; Hans-Hilger Ropers; Frans P M Cremers; Wolfgang Berger
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
Human molecular genetics 1996;5(7):1035-41.
1996: Esther van de Vosse; Arthur A B Bergen; E J Meershoek; Jan C Oosterwijk; S Gregory; B Bakker; J Weissenbach; A J Coffey; Gert-Jan B van Ommen; Johan T den Dunnen
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.
European journal of human genetics : EJHG 1996;4(2):101-4.
1996: Simone van Soest; S te Nijenhuis; L Ingeborgh Van Den Born; EM Bleeker-Wagemakers; E Sharp; L A Sandkuijl; A Westerveld; Arthur A B Bergen
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).
Cytogenetics and cell genetics 1996;73(1-2):81-5.
1995: M V Schiaffino; Maria Teresa Bassi; L Galli; Alessandra Renieri; Mirella Bruttini; F De Nigris; Arthur A B Bergen; S J Charles; J R Yates; Alfons Meindl
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
Human molecular genetics 1995;4(12):2319-25.
1995: Arthur A B Bergen; Jacoline B ten Brink; M J van Schooneveld
Efficient DNA carrier detection in X linked juvenile retinoschisis.
The British journal of ophthalmology 1995;79(7):683-6.
1995: Arthur A B Bergen; L Ingeborgh Van Den Born; E J Schuurman; Alfred J L G Pinckers; Gert-Jan B van Ommen; E M Bleekers-Wagemakers; L A Sandkuijl
Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families.
Ophthalmic genetics 1995;16(2):63-70.
1995: Maria Teresa Bassi; M V Schiaffino; Alessandra Renieri; F De Nigris; L Galli; Mirella Bruttini; Marinella Gebbia; Arthur A B Bergen; R A Lewis; A Ballabio
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
Nature genetics 1995;10(1):13-9.
1995: Arthur A B Bergen; Jacoline B ten Brink; F Riemslag; E J Schuurman; Nel Tijmes
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
Human molecular genetics 1995;4(5):931-5.
1995: Jeanine J Houwing-Duistermaat; Lodewijk A Sandkuijl; Arthur A B Bergen; Hans C van Houwelingen
Maximum-likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm.
Genetic epidemiology 1995;12(5):515-27.
1994: Arthur A B Bergen; Jacoline B ten Brink; L M Bleeker-Wagemakers; M J van Schooneveld
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
Journal of medical genetics 1994;31(12):972-5.
1994: Simone van Soest; L I van den Born; Andreas Gal; G J Farrar; L M Bleeker-Wagemakers; A Westerveld; Peter Humphries; L A Sandkuijl; Arthur A B Bergen
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.
Genomics 1994;22(3):499-504.
1994: Arthur A B Bergen; Philippe Kestelyn; M Leys; Françoise Meire
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
Journal of medical genetics 1994;31(7):580-2.
1994: Arthur A B Bergen; Jacoline B ten Brink; E J Schuurman; EM Bleeker-Wagemakers
Nance-Horan syndrome: linkage analysis in a family from The Netherlands.
Genomics 1994;21(1):238-40.
1994: Arthur A B Bergen; Françoise Meire; E J Schuurman; J W Delleman
DNA carrier detection in X-linked progressive cone dystrophy.
Clinical genetics 1994;45(5):236-40.
1994: Maria Teresa Bassi; Arthur A B Bergen; M C Wapenaar; M V Schiaffino; M van Schooneveld; J R Yates; S J Charles; T Meitinger; A Ballabio
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
Human molecular genetics 1994;3(4):647-8.
1994: Françoise Meire; Arthur A B Bergen; A De Rouck; M Leys; J W Delleman
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.
The British journal of ophthalmology 1994;78(2):103-8.
1993: Arthur A B Bergen; Françoise Meire; Jacoline B ten Brink; E J Schuurman; Gert-Jan B van Ommen; J W Delleman
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3.
Genomics 1993;18(2):463-4.
1993: Arthur A B Bergen; P Zijp; E J Schuurman; EM Bleeker-Wagemakers; P Apkarian; Gert-Jan B van Ommen
Refinement of the localization of the X-linked ocular albinism gene.
Genomics 1993;16(1):272-3.
1993: Arthur A B Bergen; M J van Schooneveld; U Orth; EM Bleeker-Wagemakers; Andreas Gal
Multipoint linkage analysis in X-linked juvenile retinoschisis.
Clinical genetics 1993;43(3):113-6.
1993: Arthur A B Bergen; M C Wapenaar; E J Schuurman; P J Diergaarde; H Lerach; Anthony P Monaco; Egbert Bakker; EM Bleeker-Wagemakers; Gert-Jan B van Ommen
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
Cytogenetics and cell genetics 1993;62(4):231-5.
1992: L Ingeborgh Van Den Born; Arthur A B Bergen; EM Bleeker-Wagemakers
A retrospective study of registered retinitis pigmentosa patients in The Netherlands.
Ophthalmic paediatrics and genetics 1992;13(4):227-36.
1992: L M Bleeker-Wagemakers; Andreas Gal; R Kumar-Singh; L I van den Born; Y Li; E Schwinger; L A Sandkuijl; Arthur A B Bergen; Paul F Kenna; Peter Humphries
Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.
Genomics 1992;14(3):811-2.
1992: Arthur A B Bergen; E J Schuurman; L Ingeborgh Van Den Born; C Samanns; D B van Dorp; Alfred J L G Pinckers; Egbert Bakker; Gert-Jan B van Ommen; Andreas Gal; EM Bleeker-Wagemakers
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
Clinical genetics 1992;41(3):135-8.
1991: Arthur A B Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; Alfred J L G Pinckers; Egbert Bakker; Andreas Gal; Gert-Jan B van Ommen; EM Bleeker-Wagemakers
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
Human genetics 1991;88(2):162-6.
1991: Arthur A B Bergen; E J Platje; I Craig; Egbert Bakker; EM Bleeker-Wagemakers; Gert-Jan B van Ommen
Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity.
Ophthalmic paediatrics and genetics 1991;12(2):99-103.
1990: Arthur A B Bergen; C Samanns; D B Van Dorp; M A Ferguson-Smith; Andreas Gal; EM Bleeker-Wagemakers
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
Ophthalmic paediatrics and genetics 1990;11(3):165-70.
1987: Marten H Hofker; Arthur A B Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.
American journal of human genetics 1987;40(4):312-28.
1986: Marten H Hofker; Arthur A B Bergen; M I Skraastad; Egbert Bakker; U Francke; B Wieringa; J Bartley; Gert-Jan B van Ommen; P L Pearson
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Human genetics 1986;74(3):275-9.
1986: Marten H Hofker; M I Skraastad; Arthur A B Bergen; M C Wapenaar; Egbert Bakker; A Millington-Ward; Gert-Jan B van Ommen; P L Pearson
The X chromosome shows less genetic variation at restriction sites than the autosomes.
American journal of human genetics 1986;39(4):438-51.