Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

by Shazia Micheal, Ilse Therésia Gabriëla Niewold, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Muhammad Imran Khan, Arthur A. B. Bergen
Published 2018-02-01

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

by Bettina Ibold, Isabel Faust, Janina Tiemann, Theo G. M. F. Gorgels, Arthur A. B. Bergen, Cornelius Knabbe, Doris Hendig
Published 2019-01-01

An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development

by Philip E. Wagstaff, Anneloor L. M. A. ten Asbroek, Jacoline B. ten Brink, Nomdo M. Jansonius, Arthur A. B. Bergen
Published 2021-01-01

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

by Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen, Shazia Micheal
Published 2020-07-01

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

by Bettina Ibold, Janina Tiemann, Isabel Faust, Uta Ceglarek, Julia Dittrich, Theo G. M. F. Gorgels, Arthur A. B. Bergen, Olivier Vanakker, Matthias Van Gils, Cornelius Knabbe, Doris Hendig
Published 2021-01-01

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

by Jurre den Haan, Tjado H. J. Morrema, Frank D. Verbraak, Johannes F. de Boer, Philip Scheltens, Annemieke J. Rozemuller, Arthur A. B. Bergen, Femke H. Bouwman, Jeroen J. Hoozemans
Published 2018-12-01

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

by Judith C Booij, Jacoline B ten Brink, Sigrid M A Swagemakers, Annemieke J M H Verkerk, Anke H W Essing, Peter J van der Spek, Arthur A B Bergen
Published 2010-01-01

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

by Sarah F Janssen, Theo G M F Gorgels, Koen Bossers, Jacoline B Ten Brink, Anke H W Essing, Martijn Nagtegaal, Peter J van der Spek, Nomdo M Jansonius, Arthur A B Bergen
Published 2012-01-01

Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

by Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin
Published 2013-01-01

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

by Sarah F Janssen, Sophie J F van der Spek, Jacoline B Ten Brink, Anke H W Essing, Theo G M F Gorgels, Peter J van der Spek, Nomdo M Jansonius, Arthur A B Bergen
Published 2013-01-01

The ERCC6 gene and age-related macular degeneration.

by Dominique C Baas, Dominiek D 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 R Vingerling, Caroline C W Klaver, Rando Allikmets, Michael Dean, Arthur A B Bergen
Published 2010-11-01

A genome-wide association study of optic disc parameters.

by 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 S Aulchenko, Roger C W Wolfs, Albert Hofman, Fernando Rivadeneira, Ben A Oostra, Andre G Uitterlinden, Pirro Hysi, Christopher J Hammond, Hans G Lemij, Johannes R Vingerling, Caroline C W Klaver, Cornelia M van Duijn
Published 2010-06-01

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

by Leonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, Nomdo M Jansonius, Francesca Pasutto, Pirro G Hysi, Stuart Macgregor, Sarah F Janssen, Alex W Hewitt, Ananth C Viswanathan, Jacoline B ten Brink, S Mohsen Hosseini, Najaf Amin, Dominiek D G Despriet, Jacqueline J M Willemse-Assink, Rogier Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y Mardin, Eugen Gramer, Ulrich Welge-Lüssen, Grant W Montgomery, Francis Carbonaro, Terri L Young, DCCT/EDIC Research Group, Céline Bellenguez, Peter McGuffin, Paul J Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Y Wong, Monika A Czudowska, Albert Hofman, Andre G Uitterlinden, Roger C W Wolfs, Paulus T V M de Jong, Ben A Oostra, Andrew D Paterson, Wellcome Trust Case Control Consortium 2, David A Mackey, Arthur A B Bergen, André Reis, Christopher J Hammond, Johannes R Vingerling, Hans G Lemij, Caroline C W Klaver, Cornelia M van Duijn
Published 2012-01-01