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den Haan, Jurre, Morrema, Tjado H J, Verbraak, Frank D, de Boer, Johannes F, Scheltens, Philip, Rozemuller, Annemieke J, Bergen, Arthur A B, Bouwman, Femke H, Hoozemans, Jeroen J
Published in Acta neuropathologica communications (28.12.2018)
Published in Acta neuropathologica communications (28.12.2018)
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Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice
Ibold, Bettina, Tiemann, Janina, Faust, Isabel, Ceglarek, Uta, Dittrich, Julia, Gorgels, Theo G. M. F., Bergen, Arthur A. B., Vanakker, Olivier, Van Gils, Matthias, Knabbe, Cornelius, Hendig, Doris
Published in Scientific reports (22.01.2021)
Published in Scientific reports (22.01.2021)
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Complement Factor H Polymorphism, Complement Activators, and Risk of Age-Related Macular Degeneration
Despriet, Dominiek D. G, Klaver, Caroline C. W, Witteman, Jacqueline C. M, Bergen, Arthur A. B, Kardys, Isabella, de Maat, Moniek P. M, Boekhoorn, Sharmila S, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Uitterlinden, André G, Stijnen, Theo, van Duijn, Cornelia M, de Jong, Paulus T. V. M
Published in JAMA : the journal of the American Medical Association (19.07.2006)
Published in JAMA : the journal of the American Medical Association (19.07.2006)
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Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Gene expression and functional annotation of the human and mouse choroid plexus epithelium
Janssen, Sarah F, van der Spek, Sophie J F, Ten Brink, Jacoline B, Essing, Anke H W, Gorgels, Theo G M F, van der Spek, Peter J, Jansonius, Nomdo M, Bergen, Arthur A B
Published in PloS one (31.12.2013)
Published in PloS one (31.12.2013)
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Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues
Ibold, Bettina, Faust, Isabel, Tiemann, Janina, Gorgels, Theo G M F, Bergen, Arthur A B, Knabbe, Cornelius, Hendig, Doris
Published in Lipids in health and disease (05.01.2019)
Published in Lipids in health and disease (05.01.2019)
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Gene expression and functional annotation of the human ciliary body epithelia
Janssen, Sarah F, Gorgels, Theo G M F, Bossers, Koen, Ten Brink, Jacoline B, Essing, Anke H W, Nagtegaal, Martijn, van der Spek, Peter J, Jansonius, Nomdo M, Bergen, Arthur A B
Published in PloS one (18.09.2012)
Published in PloS one (18.09.2012)
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Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum
Gorgels, Theo G. M. F., Waarsing, Jan H., de Wolf, Anneke, ten Brink, Jacoline B., Loves, Willem J. P., Bergen, Arthur A. B.
Published in Journal of molecular medicine (Berlin, Germany) (01.05.2010)
Published in Journal of molecular medicine (Berlin, Germany) (01.05.2010)
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ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
Jansen, Robert S., Küçükosmanoğlu, Aslı, de Haas, Marcel, Sapthu, Sunny, Otero, Jon Andoni, Hegman, Ilse E. M., Bergen, Arthur A. B., Gorgels, Theo G. M. F., Borst, P., van de Wetering, Koen
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (10.12.2013)
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Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum
Gorgels, Theo G. M. F., Waarsing, Jan H., Herfs, Marjolein, Versteeg, Daniëlle, Schoensiegel, Frank, Sato, Toshiro, Schlingemann, Reinier O., Ivandic, Boris, Vermeer, Cees, Schurgers, Leon J., Bergen, Arthur A. B.
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2011)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2011)
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Clinical course of cone dystrophy caused by mutations in the RPGR gene
Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2011)
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2011)
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The ERCC6 gene and age-related macular degeneration
Baas, Dominique C, Despriet, Dominiek D, Gorgels, Theo G M F, Bergeron-Sawitzke, Julie, Uitterlinden, André G, Hofman, Albert, van Duijn, Cornelia M, Merriam, Joanna E, Smith, R Theodore, Barile, Gaetano R, ten Brink, Jacoline B, Vingerling, Johannes R, Klaver, Caroline C W, Allikmets, Rando, Dean, Michael, Bergen, Arthur A B
Published in PloS one (01.11.2010)
Published in PloS one (01.11.2010)
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Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome
Gorgels, Theo G. M. F., van der Pluijm, Ingrid, Brandt, Renata M. C., Garinis, George A., van Steeg, Harry, van den Aardweg, Gerard, Jansen, Gerard H., Ruijter, Jan M., Bergen, Arthur A. B., van Norren, Dirk, Hoeijmakers, Jan H. J., van der Horst, Gijsbertus T. J.
Published in Molecular and Cellular Biology (01.02.2007)
Published in Molecular and Cellular Biology (01.02.2007)
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Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model
Prunier, Fabrice, Terrien, Gwenola, Le Corre, Yannick, Apana, Ailea L Y, Bière, Loïc, Kauffenstein, Gilles, Furber, Alain, Bergen, Arthur A B, Gorgels, Theo G M F, Le Saux, Olivier, Leftheriotis, Georges, Martin, Ludovic
Published in PloS one (23.07.2013)
Published in PloS one (23.07.2013)
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Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip
Booij, Judith C., MD, PhD, Bakker, Arne, BSc, Kulumbetova, Jamilia, MD, PhD, Moutaoukil, Youssef, BSc, Smeets, Bert, PhD, Verheij, Joke, MD, PhD, Kroes, Hester Y., MD, PhD, Klaver, Caroline C.W., MD, PhD, van Schooneveld, Mary, MD, PhD, Bergen, Arthur A.B., PhD, Florijn, Ralph J., PhD
Published in Ophthalmology (Rochester, Minn.) (2011)
Published in Ophthalmology (Rochester, Minn.) (2011)
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Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum
GORGELS, Theo G. M. F, WAARSING, Jan H, BERGEN, Arthur A. B, HERFS, Marjolein, VERSTEEG, Daniëlle, SCHOENSIEGEL, Frank, SATO, Toshiro, SCHLINGEMANN, Reinier O, IVANDIC, Boris, VERMEER, Cees, SCHURGERS, Leon J
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2011)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2011)
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Functional annotation of the human retinal pigment epithelium transcriptome
Booij, Judith C, van Soest, Simone, Swagemakers, Sigrid M A, Essing, Anke H W, Verkerk, Annemieke J M H, van der Spek, Peter J, Gorgels, Theo G M F, Bergen, Arthur A B
Published in BMC genomics (20.04.2009)
Published in BMC genomics (20.04.2009)
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Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4
Verhagen, Judith M.A., Huijmans, Jan G., Williams, Monique, van Ruyven, Rutger L.J., Bergen, Arthur A.B., Wouters, Cokkie H., Brooks, Alice S.
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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