Prof. A.A.B. Bergen PhD publications

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Publications Prof. PhD A.A.B. Bergen

Position
MD-PhD
Main activities
Research
Specialisation
Complex genetics of ophthalmic disorders
Focus of research

The focus of my group is to elucidate the complex genetics of ophthalmogenetic disorders and to develop rational, genomics-driven diagnostics and therapies

Amsterdam UMC Research Institutes
AMC departments
All publications

2021

  • Wagstaff Philip E., ten Asbroek Anneloor L. M. A., ten Brink Jacoline B., Jansonius Nomdo M., Bergen Arthur A. B. An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development Scientific reports 2021;11 (1) [PubMed]
  • Nguyen Xuan-Thanh-An, Talib Mays, van Cauwenbergh Caroline, van Schooneveld Mary J., Fiocco Marta, Wijnholds Jan, ten Brink Jacoline B., Florijn Ralph J., Schalij-Delfos Nicoline E., Dagnelie Gislin, van Genderen Maria M., de Baere Elfride, Meester-Smoor Magda A., de Zaeytijd Julie, Balikova Irina, Thiadens Alberta A., Hoyng Carel B., Klaver Caroline C., van den Born L. Ingeborgh, Bergen Arthur A., Leroy Bart P., Boon Camiel J. F. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study Retina (Philadelphia, Pa.) 2021;41 (1):213-223 [PubMed]
  • Talib Mays, van Schooneveld Mary J., Wijnholds Jan, van Genderen Maria M., Schalij-Delfos Nicoline E., Talsma Herman E., Florijn Ralph J., ten Brink Jacoline B., Cremers Frans P. M., Thiadens Alberta A. H. J., van den Born L. Ingeborgh, Hoyng Carel B., Meester-Smoor Magda A., Bergen Arthur A., Boon Camiel J. F. Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies Acta ophthalmologica 2021 [PubMed]
  • 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 Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice Scientific reports 2021;11 (1) [PubMed]

2020

  • Koster C. line, Wever Kimberley E., Wagstaff Philip E., van den Hurk Koen T., Hooijmans Carlijn R., Bergen Arthur A. A systematic review on transplantation studies of the retinal pigment epithelium in animal models International journal of molecular sciences 2020;21 (8) [PubMed]
  • Milicevic Nemanja Circadian regulation of the retinal pigment epithelium–photoreceptor complex 2020. 121p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Bergen Arthur A. B., Felder-Schmittbuhl Marie-Paule)
  • Bagchi Udita, Gegnaw Shumet T., Milićević Nemanja, Sandu Cristina, ten Brink Jacoline B., Jongejan Aldo, Hicks David, Moerland Perry D., Felder-Schmittbuhl Marie-Paule, Bergen Arthur A. Core-clock genes Period 1 and 2 regulate visual cascade and cell cycle components during mouse eye development Biochimica et Biophysica Acta-Gene Regulatory Mechanisms 2020;1863 (10) [PubMed]
  • Lo Faro Valeria, Siddiqui Sorath N., Khan Muhammad I., Villanueva-Mendoza Cristina, Cortés-González Vianney, Jansonius Nomdo, Bergen Arthur A. B., Micheal Shazia Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome Molecular genetics and genomic medicine 2020;8 (7) [PubMed]
  • Nguyen Xuan-Thanh-An, Talib Mays, van Schooneveld Mary J., Brinks Joost, ten Brink Jacoline, Florijn Ralph J., Wijnholds Jan, Verdijk Robert M., Bergen Arthur A., Boon Camiel J. F. RPGR-associated dystrophies: Clinical, genetic, and histopathological features International journal of molecular sciences 2020;21 (3) [PubMed]
  • Milićević Nemanja, Ten Brink Jacoline B, Ten Asbroek Anneloor L M A, Bergen Arthur A, Felder-Schmittbuhl Marie-Paule The circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1) Experimental eye research 2020;190:107861 [PubMed]

2019

  • Ibold Bettina, Faust Isabel, Tiemann Janina, Gorgels Theo G. M. F., Bergen Arthur A. B., Knabbe Cornelius, Hendig Doris Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues Lipids in health and disease 2019;18 (1):2 [PubMed]
  • Talib Mays, van Schooneveld Mary J., Thiadens Alberta A., Fiocco Marta, Wijnholds Jan, Florijn Ralph J., Schalij-Delfos Nicoline E., van Genderen Maria M., Putter Hein, Cremers Frans P. M., Dagnelie Gislin, ten Brink Jacoline B., Klaver Caroline C. W., van den Born L. Ingeborgh, Hoyng Carel B., Bergen Arthur A., Boon Camiel J. F. CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study Retina (Philadelphia, Pa.) 2019;39 (6):1186-1199 [PubMed]
  • Milićević Nemanja, Duursma Angelica, ten Asbroek Anneloor L. M. A., Felder-Schmittbuhl Marie-Paule, Bergen Arthur A. Does the circadian clock make RPE-mediated ion transport “tick” via SLC12A2 (NKCC1)? Chronobiology international 2019;36 (11):1592-1598 [PubMed]
  • Micheal Shazia, Siddiqui Sorath Noorani, Zafar Saemah Nuzhat, Gabriëla Niewold Ilse Therésia, Khan Muhammad Imran, Bergen Arthur A. B. Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome Cornea 2019;38 (6):718-722 [PubMed]
  • Colijn Johanna M, den Hollander Anneke I, Demirkan Ayse, Cougnard-Grégoire Audrey, Verzijden Timo, Kersten Eveline, Meester-Smoor Magda A, Merle Benedicte M J, Papageorgiou Grigorios, Ahmad Shahzad, Mulder Monique T, Costa Miguel Angelo, Benlian Pascale, Bertelsen Geir, Bron Alain M, Claes Birte, Creuzot-Garcher Catherine, Erke Maja Gran, Fauser Sascha, Foster Paul J, Hammond Christopher J, Hense Hans-Werner, Hoyng Carel B, Khawaja Anthony P, Korobelnik Jean-Francois, Piermarocchi Stefano, Segato Tatiana, Silva Rufino, Souied Eric H, Williams Katie M, van Duijn Cornelia M, Bergen Arthur Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia Ophthalmology 2019;126 (3):393-406 [PubMed]
  • Talib Mays, van Schooneveld Mary J., van Duuren Roos J. G., van Cauwenbergh Caroline, ten Brink Jacoline B., de Baere Elfride, Florijn Ralph J., Schalij-Delfos Nicoline E., Leroy Bart P., Bergen Arthur A., Boon Camiel J. F. Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations Translational Vision Science and Technology 2019;8 (4) [PubMed]
  • Verbakel Sanne K., van Huet Ramon A. C., den Hollander Anneke I., Geerlings Maartje J., Kersten Eveline, Klevering B. Jeroen, Klaver Caroline C. W., Plomp Astrid S., Wesseling Nieneke L., Bergen Arthur A. B., Nikopoulos Konstantinos, Rivolta Carlo, Ikeda Yasuhiro, Sonoda Koh-Hei, Wada Yuko, Boon Camiel J. F., Nakazawa Toru, Hoyng Carel B., Nishiguchi Koji M. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum Investigative ophthalmology & visual science 2019;60 (4):1192-1203 [PubMed]
  • Bergen Arthur A, Arya Swati, Koster Céline, Pilgrim Matthew G, Wiatrek-Moumoulidis Dagmara, van der Spek Peter J, Hauck Stefanie M, Boon Camiel J F, Emri Eszter, Stewart Alan J, Lengyel Imre On the origin of proteins in human drusen: The meet, greet and stick hypothesis Progress in retinal and eye research 2019;70:55-84 [PubMed]
  • Milićević Nemanja, Mazzaro Nadia, de Bruin Ivanka, Wils Esmée, ten Brink Jacoline, Asbroek Anneloor ten, Mendoza Jorge, Bergen Arthur, Felder-Schmittbuhl Marie-Paule Rev-Erbα and Photoreceptor Outer Segments modulate the Circadian Clock in Retinal Pigment Epithelial Cells Scientific reports 2019;9 (1) [PubMed]
  • Gattoussi Sarra, Buitendijk Gabriëlle H. S., Peto Tunde, Leung Irene, Schmitz-Valckenberg Steffen, Oishi Akio, Wolf Sebastian, Deák G. bor, Delcourt C. cile, Klaver Caroline C. W., Korobelnik Jean-François, Acar Niyazi, Anastosopoulos Eleftherios, Azuara-Blanco Augusto, Berendschot Tos, Bergen Arthur, Bertelsen Geir, Binquet Christine, Bird Alan, Bobak Martin, Bøgelund Larsen Morten, Boon Camiel, Bourne Rupert, Brétillon Lionel, Broe Rebecca, Bron Alain, Cachulo Maria Luz, Capuano Vittorio, Carrière Isabelle, Chakravarthy Usha, Chan Michelle, Chang Petrus, Colijn Johanna, Cougnard-Grégoire Audrey, Cree Angela, Creuzot-Garcher Catherine, Cumberland Phillippa, Cunha-Vaz José, Daien Vincent, de Jong Eiko, Deak Gabor, Delyfer Marie-Noëlle, den Hollander Anneke, Dietzel Martha, Erke Maja Gran, Faria Pedro, Farinha Claudia, Fauser Sascha, Finger Robert, Fletcher Astrid, Yip Jennifer, Zerbib Jennyfer The European Eye Epidemiology spectral-domain optical coherence tomography classification of macular diseases for epidemiological studies Acta ophthalmologica 2019;97 (4):364-371 [PubMed]

2018

  • 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. Amyloid-beta and phosphorylated tau in post-mortem Alzheimer's disease retinas Acta neuropathologica communications 2018;6 (1):147 [PubMed]
  • Micheal Shazia, Niewold Ilse Therésia Gabriëla, Siddiqui Sorath Noorani, Zafar Saemah Nuzhat, Khan Muhammad Imran, Bergen Arthur A. B. Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families Genes 2018;9 (2) [PubMed]
  • Tedja Milly S., Wojciechowski Robert, Hysi Pirro G., Eriksson Nicholas, Furlotte Nicholas A., Verhoeven Virginie J. M., Iglesias Adriana I., Meester-Smoor Magda A., Tompson Stuart W., Fan Qiao, Khawaja Anthony P., Cheng Ching-Yu, Höhn René, Yamashiro Kenji, Wenocur Adam, Grazal Clare, Haller Toomas, Metspalu Andres, Wedenoja Juho, Jonas Jost B., Wang Ya Xing, Xie Jing, Mitchell Paul, Foster Paul J., Klein Barbara E. K., Klein Ronald, Paterson Andrew D., Hosseini S. Mohsen, Shah Rupal L., Williams Cathy, Teo Yik Ying, Tham Yih Chung, Gupta Preeti, Zhao Wanting, Shi Yuan, Saw Woei-Yuh, Tai E. Shyong, Sim Xue Ling, Huffman Jennifer E., Polašek Ozren, Hayward Caroline, Bencic Goran, Rudan Igor, Wilson James F., Aung Tin, Chen Wei, Meijers-Heijboer Hanne, van Leeuwen Elisabeth M., Bergen Arthur A., Chen Wei Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error Nature genetics 2018;50 (6):834-848 [PubMed]
  • van Schuppen Sanne M., Talib Mays, Bergen Arthur A., ten Brink Jacoline B., Florijn Ralph J., Boon Camiel J. F., van Schooneveld Mary J. LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION Retina (Philadelphia, Pa.) 2018;38 (9):1713-1724 [PubMed]
  • Fabian-Jessing Bjørn K., Vestergaard Else Marie, Plomp Astrid S., Bergen Arthur A., Dreschler Wouter A., Duno Morten, Winiarska Beata S., Neumann Linda, Gaihede Michael, Vorum Henrik, Petersen Michael B. Ocular albinism with infertility and late-onset sensorineural hearing loss American journal of medical genetics. Part A 2018;176 (7):1587-1593 [PubMed]
  • Mauschitz Matthias M., Bonnemaijer Pieter W. M., Diers Kersten, Rauscher Franziska G., Elze Tobias, Engel Christoph, Loeffler Markus, Colijn Johanna Maria, Ikram M. Arfan, Vingerling Johannes R., Williams Katie M., Hammond Christopher J., Creuzot-Garcher Catherine, Bron Alain M., Silva Rufino, Nunes Sandrina, Delcourt C. cile, Cougnard-Grégoire Audrey, Holz Frank G., Klaver Caroline C. W., Breteler Monique M. B., Finger Robert P., Acar Niyazi, Anastosopoulos Eleftherios, Azuara-Blanco Augusto, Berendschot Tos, Bergen Arthur, Bertelsen Geir, Binquet Christine, Bird Alan, Bobak Martin, Larsen Morten B. gelund, Boon Camiel, Bourne Rupert, Brétillon Lionel, Broe Rebecca, Bron Alain, Buitendijk Gabrielle, Cachulo Maria Luz, Capuano Vittorio, Carrière Isabelle, Chakravarthy Usha, Chan Michelle, Chang Petrus, Colijn Johanna, Cougnard-Grégoire Audrey, Cree Angela, Creuzot-Garcher Catherine, Cumberland Phillippa, Cunha-Vaz José Systemic and Ocular Determinants of Peripapillary Retinal Nerve Fiber Layer Thickness Measurements in the European Eye Epidemiology (E3) Population Ophthalmology 2018;125 (10):1526-1536 [PubMed]
  • Delcourt C. cile, le Goff M. lanie, von Hanno Therese, Mirshahi Alireza, Khawaja Anthony P., Verhoeven Virginie J. M., Hogg Ruth E., Anastosopoulos Eleftherios, Cachulo Maria Luz, Höhn René, Wolfram Christian, Bron Alain, Miotto Stefania, Carrière Isabelle, Colijn Johanna M., Buitendijk Gabriëlle H. S., Evans Jennifer, Nitsch Dorothea, Founti Panayiota, Yip Jennifer L. Y., Pfeiffer Norbert, Creuzot-Garcher Catherine, Silva Rufino, Piermarocchi Stefano, Topouzis Fotis, Bertelsen Geir, Foster Paul J., Fletcher Astrid, Klaver Caroline C. W., Korobelnik Jean-François, Acar Niyazi, Anastosopoulos Eleftherios, Azuara-Blanco Augusto, Berendschot Tos, Bergen Arthur, Bertelsen Geir, Binquet Christine, Bird Alan, Bobak Martin, Boon Camiel, Brétillon Lionel, Broe Rebecca, Bron Alain, Buitendijk Gabrielle, Cachulo Maria Luz, Capuano Vittorio, Carrière Isabelle, Chakravarthy Usha, Chan Michelle, Chang Petrus The Decreasing Prevalence of Nonrefractive Visual Impairment in Older Europeans: A Meta-analysis of Published and Unpublished Data Ophthalmology 2018;125 (8):1149-1159 [PubMed]
  • Kruijt Charlotte C., de Wit Gerard C., Bergen Arthur A., Florijn Ralph J., Schalij-Delfos Nicoline E., van Genderen Maria M. The Phenotypic Spectrum of Albinism Ophthalmology 2018;125 (12):1953-1960 [PubMed]
  • Talib Mays, van Schooneveld Mary J., van Cauwenbergh Caroline, Wijnholds Jan, ten Brink Jacoline B., Florijn Ralph J., Schalij-Delfos Nicoline E., Dagnelie Gislin, van Genderen Maria M., de Baere Elfride, Meester-Smoor Magda A., de Zaeytijd Julie, Cremers Frans P. M., van den Born L. Ingeborgh, Thiadens Alberta A., Hoyng Carel B., Klaver Caroline C., Leroy Bart P., Bergen Arthur A., Boon Camiel J. F. The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene Investigative ophthalmology & visual science 2018;59 (10):4123-4133 [PubMed]

2017

  • Bennis Anna A quest for the best retinal pigment epithelium (stem) cell replacement therapy 2017. 137p. ISBN 9789462997561. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Bergen A. A. B.; Co-supervisor: Heine V. M.)
  • Bennis Anna, ten Brink Jacoline B., Moerland Perry D., Heine Vivi M., Bergen Arthur A. Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium PLoS ONE 2017;12 (8):e0182983 [PubMed]
  • Hendriks Michelle, Verhoeven Virginie J. M., Buitendijk Gabriëlle H. S., Polling Jan Roelof, Meester-Smoor Magda A., Hofman Albert, Kamermans Maarten, Ingeborgh van den Born L., Klaver Caroline C. W., van Huet Ramon A., Klevering B. Jeroen, Bax Nathalie M., Lambertus Stanley, Hoyng Carel B., Oomen Clasien J., van Zelst-Stams Wendy A., Cremers Frans P., Plomp Astrid S., van Schooneveld Mary J., van Genderen Mies M., Schuil José, Boonstra F. Nienke, Schlingemann Reinier O., Bergen Arthur A., Pierrache Laurence, Meester-Smoor Magda, van den Born L. Ingeborgh, Boon Camiel J., Pott Jan W. R., van Leeuwen Redmer, Kroes Hester Y., de Jong-Hesse Yvonne Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies? American journal of ophthalmology 2017;182:81-89 [PubMed]
  • Talib Mays, van Schooneveld Mary J., van Genderen Maria M., Wijnholds Jan, Florijn Ralph J., ten Brink Jacoline B., Schalij-Delfos Nicoline E., Dagnelie Gislin, Cremers Frans P. M., Wolterbeek Ron, Fiocco Marta, Thiadens Alberta A., Hoyng Carel B., Klaver Caroline C., Bergen Arthur A., Boon Camiel J. F. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study Ophthalmology 2017;124 (6):884-895 [PubMed]
  • Mathijssen Inge B., Florijn Ralph J., van den Born L. Ingeborgh, Zekveld-Vroon Renate C., ten Brink Jacoline B., Plomp Astrid S., Baas Frank, Meijers-Heijboer Hanne, Bergen Arthur A. B., van Schooneveld Mary J. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability Retina (Philadelphia, Pa.) 2017;37 (1):161-172 [PubMed]
  • Bergen Arthur A. Nicotinamide, iRPE-in-a dish, and age-related macular degeneration therapy development Stem cell investigation 2017;4:81 [PubMed]
  • Colijn Johanna M., Buitendijk Gabriëlle H. S., Prokofyeva Elena, Alves Dalila, Cachulo Maria L., Khawaja Anthony P., Cougnard-Gregoire Audrey, Merle Bénédicte M. J., Korb Christina, Erke Maja G., Bron Alain, Anastasopoulos Eleftherios, Meester-Smoor Magda A., Segato Tatiana, Piermarocchi Stefano, de Jong Paulus T. V. M., Vingerling Johannes R., Topouzis Fotis, Creuzot-Garcher Catherine, Bertelsen Geir, Pfeiffer Norbert, Fletcher Astrid E., Foster Paul J., Silva Rufino, Korobelnik Jean-François, Delcourt Cécile, Klaver Caroline C. W., Ajana Soufiane, Arango-Gonzalez Blanca, Arndt Verena, Bhatia Vaibhav, Bhattacharya Shomi S., Biarnés Marc, Borrell Anna, Bühren Sebastian, Calado Sofia M., Cougnard-Grégoire Audrey, Dammeier Sascha, de Jong Eiko K., de la Cerda Berta, den Hollander Anneke I., Diaz-Corrales Francisco J., Diether Sigrid, Emri Eszter, Endermann Tanja, Ferraro Lucia L., Garcia Míriam, Heesterbeek Thomas J., Honisch Sabina, Bergen Arthur Prevalence of Age-Related Macular Degeneration in Europe Ophthalmology 2017;124 (12):1753-1763 [PubMed]
  • Bennis A., Jacobs J. G., Catsburg L. A. E., ten Brink J. B., Koster C., Schlingemann R. O., van Meurs J., Gorgels T. G. M. F., Moerland P. D., Heine V. M., Bergen A. A. Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium STEM CELL REVIEWS AND REPORTS 2017;13 (5):659-669 [PubMed]

2016

  • Khawaja Anthony P., Springelkamp Henriët, Creuzot-Garcher Catherine, Delcourt Cécile, Hofman Albert, Höhn René, Iglesias Adriana I., Wolfs Roger C. W., Korobelnik Jean-François, Silva Rufino, Topouzis Fotis, Williams Katie M., Bron Alain M., Buitendijk Gabriëlle H. S., Cachulo Maria da Luz, Cougnard-Grégoire Audrey, Dartigues Jean-François, Hammond Christopher J., Pfeiffer Norbert, Salonikiou Angeliki, van Duijn Cornelia M., Vingerling Johannes R., Luben Robert N., Mirshahi Alireza, Lamparter Julia, Klaver Caroline C. W., Jansonius Nomdo M., Foster Paul J., Acar Niyazi, Anastosopoulos Eleftherios, Azuara-Blanco Augusto, Bergen Arthur, Bertelsen Geir, Binquet Christine, Bird Alan, Brétillon Lionel, Bron Alain, Buitendijk Gabrielle, Cachulo Maria Luz, Chakravarthy Usha, Chan Michelle, Chang Petrus, Colijn Annemarie, Cumberland Philippa, Cunha-Vaz José, Daien Vincent, Deak Gabor, Delyfer Marie-Noëlle, Hollander Anneke den, Dietzel Martha Associations with intraocular pressure across Europe: The European Eye Epidemiology (E-3) Consortium European journal of epidemiology 2016;31 (11):1101-1111 [PubMed]
  • van Dijk Elon H. C., Duits Danique E. M., Versluis Mieke, Luyten Gregrorius P. M., Bergen Arthur A. B., Kapiteijn Ellen W., de Lange Mark J., Boon Camiel J. F., van der Velden Pieter A. Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients Medicine 2016;95 (18):e3457 [PubMed]
  • Delcourt Cécile, Korobelnik Jean-François, Buitendijk Gabriëlle H. S., Foster Paul J., Hammond Christopher J., Piermarocchi Stefano, Peto Tunde, Jansonius Nomdo, Mirshahi Alireza, Hogg Ruth E., Bretillon Lionel, Topouzis Fotis, Deak Gabor, Grauslund Jakob, Broe Rebecca, Souied Eric H., Creuzot-Garcher Catherine, Sahel José, Daien Vincent, Lehtimäki Terho, Hense Hans-Werner, Prokofyeva Elena, Oexle Konrad, Rahi Jugnoo S., Cumberland Phillippa M., Schmitz-Valckenberg Steffen, Fauser Sascha, Bertelsen Geir, Hoyng Carel, Bergen Arthur, Silva Rufino, Wolf Sebastian, Lotery Andrew, Chakravarthy Usha, Fletcher Astrid, Klaver Caroline C. W. Ophthalmic epidemiology in Europe: the "European Eye Epidemiology" (E3) consortium European journal of epidemiology 2016;31 (2):197-210 [PubMed]
  • Pierrache Laurence H. M., Hartel Bas P., van Wijk Erwin, Meester-Smoor Magda A., Cremers Frans P. M., de Baere Elfride, de Zaeytijd Julie, van Schooneveld Mary J., Cremers Cor W. R. J., Dagnelie Gislin, Hoyng Carel B., Bergen Arthur A., Leroy Bart P., Pennings Ronald J. E., van den Born L. Ingeborgh, Klaver Caroline C. W. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa Ophthalmology 2016;123 (5):1151-1160 [PubMed]

2015

  • Bennis Anna, Gorgels Theo G. M. F., ten Brink Jacoline B., van der Spek Peter J., Bossers Koen, Heine Vivi M., Bergen Arthur A. Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular Degeneration PLoS ONE 2015;10 (10):e0141597 [PubMed]
  • Boon Camiel J. F., van den Born L. Ingeborgh, Keunen Jan E. E., Bergen Arthur A. B., Riemslag Frans C., Florijn Ralph J., van Schooneveld Mary J. Correspondence Retina (Philadelphia, Pa.) 2015;35 (9):e57-e58 [PubMed]
  • Marton Jennifer, Albert Danica, Wiltshire Sean A., Park Robin, Bergen Arthur, Qureshi Salman, Malo Danielle, Burelle Yan, Vidal Silvia M. Cyclosporine A Treatment Inhibits Abcc6-Dependent Cardiac Necrosis and Calcification following Coxsackievirus B3 Infection in Mice PLoS ONE 2015;10 (9):e0138222 [PubMed]
  • Bergen Arthur A., Kaing Sovann, ten Brink Jacoline B., Gorgels Theo G., Janssen Sarah F. Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease BMC genomics 2015;16 (1):956 [PubMed]
  • Janssen Sarah F., Jansonius Nomdo M., Bouwman Femke, Verbraak Frank D., Bergen Arthur A. Systematic review of the association between Alzheimer's disease and chronic glaucoma Clinical ophthalmology (Auckland, N.Z.) 2015;9:783-784 [PubMed]

2014

  • Jansen Robert S., Duijst Suzanne, Mahakena Sunny, Sommer Daniela, Szeri Flóra, Váradi András, Plomp Astrid, Bergen Arthur A., Oude Elferink Ronald P. J., Borst Piet, van de Wetering Koen ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report Arteriosclerosis, thrombosis, and vascular biology 2014;34 (9):1985-1989 [PubMed]
  • Janssen Sarah F., Gorgels Theo G. M. F., Ramdas Wishal D., Klaver Caroline C. W., van Duijn Cornelia M., Jansonius Nomdo M., Bergen Arthur A. B. Alzheimer's disease and glaucoma-reply Progress in retinal and eye research 2014;39:108-110 [PubMed]
  • Kauffenstein Gilles, Pizard A., Le Corre Y., Vessières E., Grimaud L., Toutain B., Labat C., Mauras Y., Gorgels T. G., Bergen A. A., Le Saux O., Lacolley P., Lefthériotis G., Henrion D., Martin L. Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum Arteriosclerosis, thrombosis, and vascular biology 2014;34 (5):1045-1056 [PubMed]
  • Janssen Sarah F., Gorgels Theo G. M. F., ten Brink Jacoline B., Jansonius Nomdo M., Bergen Arthur A. B. Gene expression-based comparison of the human secretory neuroepithelia of the brain choroid plexus and the ocular ciliary body: potential implications for glaucoma Fluids and barriers of the CNS 2014;11 (1):2 [PubMed]
  • Janssen Sarah F., Bennis Anna, Heine Vivi M., Bergen Arthur A. B. Human ciliary epithelia do express genes with retinal progenitor cell characteristics in vivo Experimental eye research 2014;121:41 [PubMed]
  • Springelkamp Henriët, Höhn René, Mishra Aniket, Hysi Pirro G., Khor Chiea-Chuen, Loomis Stephanie J., Bailey Jessica N. Cooke, Gibson Jane, Thorleifsson Gudmar, Janssen Sarah F., Luo Xiaoyan, Ramdas Wishal D., Vithana Eranga, Nongpiur Monisha E., Montgomery Grant W., Xu Liang, Mountain Jenny E., Gharahkhani Puya, Lu Yi, Amin Najaf, Karssen Lennart C., Sim Kar-Seng, van Leeuwen Elisabeth M., Iglesias Adriana I., Verhoeven Virginie J. M., Hauser Michael A., Loon Seng-Chee, Despriet Dominiek D. G., Nag Abhishek, Venturini Cristina, Sanfilippo Paul G., Schillert Arne, Kang Jae H., Landers John, Jonasson Fridbert, Cree Angela J., van Koolwijk Leonieke M. E., Rivadeneira Fernando, Souzeau Emmanuelle, Jonsson Vesteinn, Menon Geeta, Weinreb Robert N., de Jong Paulus T. V. M., Oostra Ben A., Uitterlinden André G., Hofman Albert, Ennis Sarah, Thorsteinsdottir Unnur, Burdon Kathryn P., Bergen Arthur A. B. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process Nature communications 2014;5:4883 [PubMed]
  • Janssen Sarah Frederique Molecular mechanisms underlying primary open angle glaucoma 2014. 277p. ISBN 9789053359365. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Bergen A. A. B., Jansonius N. M.; Co-supervisor: Gorgels T. G. M. F.)
  • Kariminejad Ariana, Bozorgmehr Bita, Najafi Abdolhamid, Khoshaeen Atefeh, Ghalandari Maryam, Najmabadi Hossein, Kariminejad Mohamad H., Vanakker Olivier M., Hosen Mohammad J., Malfait Fransiska, Quaglino Daniela, Florijn Ralph J., Bergen Arthur A. B., Hennekam Raoul C. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations Journal of investigative dermatology 2014;134 (9):2331-2338 [PubMed]
  • Brampton Christopher, Aherrahrou Zouhair, Chen Li-Hsieh, Martin Ludovic, Bergen Arthur A. B., Gorgels Theo G. M. F., Erdfdi Jeannette, Schunkert Heribert, Szabó Zalán, Váradi András, Le Saux Olivier The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury American journal of pathology 2014;184 (1):159-170 [PubMed]
  • van Huet Ramon A. C., Oomen Clasien J., Plomp Astrid S., van Genderen Maria M., Klevering B. Jeroen, Schlingemann Reinier O., Klaver Caroline C. W., van den Born L. Ingeborgh, Cremers Frans P. M., Bax Nathalie M., Hoyng Carel B., van Zelst-Stams Wendy A., Bergen Arthur A. B., Schuil José, van Schooneveld Mary J., Pierrache Laurence, Meester-Smoor Magda A., Boon Camiel J. F., Pott Jan Willem R., van Leeuwen Redmer, Kroes Hester Y., Boonstra F. Nienke The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases Investigative ophthalmology & visual science 2014;55 (11):7355-7360 [PubMed]

2013

  • Jansen Robert S., Küçükosmanoglu 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 ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release Proceedings of the National Academy of Sciences of the United States of America 2013;110 (50):20206-20211 [PubMed]
  • Boon Camiel J. F., van den Born L. Ingeborgh, Visser Linda, Keunen Jan E. E., Bergen Arthur A. B., Booij Judith C., Riemslag Frans C., Florijn Ralph J., van Schooneveld Mary J. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options Ophthalmology 2013;120 (4):809-820 [PubMed]
  • Ramos de Carvalho J. Emanuel, Klaassen Ingeborg, Vogels Ilse M. C., Schipper-Krom Sabine, van Noorden Cornelis J. F., Reits Eric, Gorgels Theo G. M. F., Bergen Arthur A. B., Schlingemann Reinier O. Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration Investigative ophthalmology & visual science 2013;54 (10):6489-6501 [PubMed]
  • Yzer Suzanne, Barbazetto Irene, Allikmets Rando, van Schooneveld Mary J., Bergen Arthur, Tsang Stephen H., Jacobson Samuel G., Yannuzzi Lawrence A. Expanded clinical spectrum of enhanced S-cone syndrome JAMA ophthalmology 2013;131 (10):1324-1330 [PubMed]
  • 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. Gene expression and functional annotation of the human and mouse choroid plexus epithelium PLoS ONE 2013;8 (12):e83345 [PubMed]
  • Verhoeven Virginie J. M., Hysi Pirro G., Wojciechowski Robert, Fan Qiao, Guggenheim Jeremy A., Höhn René, Macgregor Stuart, Hewitt Alex W., Nag Abhishek, Cheng Ching-Yu, Yonova-Doing Ekaterina, Zhou Xin, Ikram M. Kamran, Buitendijk Gabriëlle H. S., McMahon George, Kemp John P., Pourcain Beate St, Simpson Claire L., Mäkelä Kari-Matti, Lehtimäki Terho, Kähönen Mika, Paterson Andrew D., Hosseini S. Mohsen, Wong Hoi Suen, Xu Liang, Jonas Jost B., Pärssinen Olavi, Wedenoja Juho, Yip Shea Ping, Ho Daniel W. H., Pang Chi Pui, Chen Li Jia, Burdon Kathryn P., Craig Jamie E., Klein Barbara E. K., Klein Ronald, Haller Toomas, Metspalu Andres, Khor Chiea-Chuen, Tai E.-Shyong, Aung Tin, Vithana Eranga, Tay Wan-Ting, Barathi Veluchamy A., Chen Peng, Li Ruoying, Liao Jiemin, Zheng Yingfeng, Ong Rick T., Döring Angela, Evans David M., Timpson Nicholas J., Verkerk Annemieke J. M. H., Meitinger Thomas, Raitakari Olli, Hawthorne Felicia, Spector Tim D., Karssen Lennart C., Pirastu Mario, Murgia Federico, Ang Wei, Mishra Aniket, Montgomery Grant W., Pennell Craig E., Cumberland Phillippa M., Cotlarciuc Ioana, Mitchell Paul, Wang Jie Jin, Schache Maria, Janmahasatian Sarayut, Igo Robert P., Lass Jonathan H., Chew Emily, Iyengar Sudha K., Gorgels Theo G. M. F., Rudan Igor, Hayward Caroline, Wright Alan F., Polasek Ozren, Vatavuk Zoran, Wilson James F., Fleck Brian, Zeller Tanja, Mirshahi Alireza, Müller Christian, Uitterlinden André G., Rivadeneira Fernando, Vingerling Johannes R., Hofman Albert, Oostra Ben A., Amin Najaf, Bergen Arthur A. B., teo Yik-Ying, Rahi Jugnoo S., Vitart Veronique, Williams Cathy, Baird Paul N., Wong Tien-Yin, Oexle Konrad, Pfeiffer Norbert, Mackey David A., Young Terri L., van Duijn Cornelia M., Saw Seang-Mei, Bailey-Wilson Joan E., Stambolian Dwight, Klaver Caroline C., Hammond Christopher J. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia Nature genetics 2013;45 (6):712 [PubMed]
  • Verhoeven Virginie J. M., Hysi Pirro G., Wojciechowski Robert, Fan Qiao, Guggenheim Jeremy A., Höhn René, Macgregor Stuart, Hewitt Alex W., Nag Abhishek, Cheng Ching-Yu, Yonova-Doing Ekaterina, Zhou Xin, Ikram M. Kamran, Buitendijk Gabriëlle H. S., McMahon George, Kemp John P., Pourcain Beate St, Simpson Claire L., Mäkelä Kari-Matti, Lehtimäki Terho, Kähönen Mika, Paterson Andrew D., Hosseini S. Mohsen, Wong Hoi Suen, Xu Liang, Jonas Jost B., Pärssinen Olavi, Wedenoja Juho, Yip Shea Ping, Ho Daniel W. H., Pang Chi Pui, Chen Li Jia, Burdon Kathryn P., Craig Jamie E., Klein Barbara E. K., Klein Ronald, Haller Toomas, Metspalu Andres, Khor Chiea-Chuen, Tai E.-Shyong, Aung Tin, Vithana Eranga, Tay Wan-Ting, Barathi Veluchamy A., Chen Peng, Li Ruoying, Liao Jiemin, Zheng Yingfeng, Bergen Arthur A. B., Chen Wei Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia Nature genetics 2013;45 (3):314-318 [PubMed]
  • Bijveld Mieke M. C., Florijn Ralph J., Bergen Arthur A. B., van den Born L. Ingeborgh, Kamermans Maarten, Prick Liesbeth, Riemslag Frans C. C., van Schooneveld Mary J., Kappers Astrid M. L., van Genderen Maria M. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness Ophthalmology 2013;120 (10):2072-2081 [PubMed]
  • Janssen Sarah F., Gorgels Theo G. M. F., van der Spek Peter J., Jansonius Nomdo M., Bergen Arthur A. B. In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucoma Journal of clinical bioinformatics 2013;3 (1):21 [PubMed]
  • Reis Aldina, Mateus Catarina, Viegas Teresa, Florijn Ralph, Bergen Arthur, Silva Eduardo, Castelo-Branco Miguel Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2013;251 (1):221-234 [PubMed]
  • 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 Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model PLoS ONE 2013;8 (7):e68700 [PubMed]
  • Janssen Sarah F., Gorgels Theo G. M. F., Ramdas Wishal D., Klaver Caroline C. W., van Duijn Cornelia M., Jansonius Nomdo M., Bergen Arthur A. B. The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology Progress in retinal and eye research 2013;37:31-67 [PubMed]
  • Klooster Jan, van Genderen Maria M., Yu Minzhong, Florijn Ralph J., Riemslag Frans C. C., Bergen Arthur A. B., Gregg Ronald G., Peachey Neal S., Kamermans Maarten Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model Investigative ophthalmology & visual science 2013;54 (10):6973-6981 [PubMed]
  • Perrault Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, Aboussair Nisrine, Banfi Sandro, Delphin Nathalie, den Hollander Anneke I., Edelson Catherine, Florijn Ralph, Jean-Pierre Marc, Leowski Corinne, Megarbane Andre, Villanueva Cristina, Flores Blanca, Munnich Arnold, Ren Huanan, Zobor Ditta, Bergen Arthur, Chen Rui, Cremers Frans P. M., Gonzalez-Duarte Roser, Koenekoop Robert K., Simonelli Francesca, Stone Edwin, Wissinger Bernd, Zhang Qingjiong, Kaplan Josseline, Rozet Jean-Michel Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype PLoS ONE 2013;8 (1):e51622 [PubMed]

2012

  • Gorgels Theo G. M. F., Teeling Peter, Meeldijk Johannes D., Nillesen Suzan T. M., van der Wal Allard C., van Kuppevelt Toin H., Bergen Arthur A. B. Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane Experimental eye research 2012;104:59-64 [PubMed]
  • Thiadens Alberta A. H. J., Phan T. My Lan, Zekveld-Vroon Renate C., Leroy Bart P., van den Born L. Ingeborgh, Hoyng Carel B., Klaver Caroline C. W., Roosing Susanne, Pott Jan-Willem R., Schooneveld Mary J. van, Moll-Ramirez Norka van, Genderen Maria M. van, Boon Camiel J. F., Hollander Anneke I. den, Bergen Arthur A. B., Baere Elfride De, Cremers Frans P. M., Lotery Andrew J. Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy Ophthalmology 2012;119 (4):819-826 [PubMed]
  • van Koolwijk Leonieke M. E., Ramdas Wishal D., Ikram M. Kamran, Jansonius Nomdo M., Pasutto Francesca, Hysi Pirro G., Macgregor Stuart, Janssen Sarah F., Hewitt Alex W., Viswanathan Ananth C., ten Brink Jacoline B., Hosseini S. Mohsen, Amin Najaf, Despriet Dominiek D. G., Willemse-Assink Jacqueline J. M., Kramer Rogier, Rivadeneira Fernando, Struchalin Maksim, Aulchenko Yurii S., Weisschuh Nicole, Zenkel Matthias, Mardin Christian Y., Gramer Eugen, Welge-Lüssen Ulrich, Montgomery Grant W., Carbonaro Francis, Young Terri L., Bellenguez Céline, McGuffin Peter, Foster Paul J., Topouzis Fotis, Mitchell Paul, Wang Jie Jin, Wong Tien Y., Czudowska Monika A., Hofman Albert, Uitterlinden Andre G., Wolfs Roger C. W., de Jong Paulus T. V. M., Oostra Ben A., Paterson Andrew D., Mackey David A., Bergen Arthur A. B., Reis André, Hammond Christopher J., Vingerling Johannes R., Lemij Hans G., Klaver Caroline C. W., van Duijn Cornelia M., Donnelly Peter Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma PLoS genetics 2012;8 (5):e1002611 [PubMed]
  • Sofat Reecha, Casas Juan P., Webster Andrew R., Bird Alan C., Mann Samantha S., Yates John R. W., Moore Anthony T., Sepp Tiina, Cipriani Valentina, Bunce Catey, Khan Jane C., Shahid Humma, Swaroop Anand, Abecasis Gonçalo, Branham Kari E. H., Zareparsi Sepideh, Bergen Arthur A., Klaver Caroline C. W., Baas Dominique C., Zhang Kang, Chen Yuhong, Gibbs Daniel, Weber Bernhard H. F., Keilhauer Claudia N., Fritsche Lars G., Lotery Andrew, Cree Angela J., Griffiths Helen L., Bhattacharya Shomi S., Chen Li L., Jenkins Sharon A., Peto Tunde, Lathrop Mark, Leveillard Thierry, Gorin Michael B., Weeks Daniel E., Ortube Maria Carolina, Ferrell Robert E., Jakobsdottir Johanna, Conley Yvette P., Rahu Mati, Seland Johan H., Soubrane Gisele, Topouzis Fotis, Vioque Jesus, Tomazzoli Laura, Young Ian, Whittaker John, Chakravarthy Usha, de Jong Paulus T. V. M., Smeeth Liam, Fletcher Astrid, Hingorani Aroon D. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype International journal of epidemiology 2012;41 (1):250-262 [PubMed]
  • 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. Gene Expression and Functional Annotation of the Human Ciliary Body Epithelia PLoS ONE 2012;7 (9):e44973 [PubMed]
  • Baas Dominique C. Genetic studies of age-related macular degeneration 2012. 269p. ISBN 9789090271590. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Bergen A. A. B.; Co-supervisor: Gorgels T. G. M. F.)
  • Peachey Neal S., Ray Thomas A., Florijn Ralph, Rowe Lucy B., Sjoerdsma Trijntje, Contreras-Alcantara Susana, Baba Kenkichi, Tosini Gianluca, Pozdeyev Nikita, Iuvone P. Michael, Bojang Pasano, Pearring Jillian N., Simonsz Huibert Jan, van Genderen Maria, Birch David G., Traboulsi Elias I., Dorfman Allison, Lopez Irma, Ren Huanan, Goldberg Andrew F. X., Nishina Patsy M., Lachapelle Pierre, McCall Maureen A., Koenekoop Robert K., Bergen Arthur A. B., Kamermans Maarten, Gregg Ronald G. 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):331-339 [PubMed]
  • Verhagen Judith M. A., Huijmans Jan G., Williams Monique, van Ruyven Rutger L. J., Bergen Arthur A. B., Wouters Cokkie H., Brooks Alice S. 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):2931-2934 [PubMed]
  • Baas Dominique C., Ho Lintje, Tanck Michael W. T., Fritsche Lars G., Merriam Joanna E., van Het Slot Ruben, Koeleman Bobby P. C., Gorgels Theo G. M. F., van Duijn Cornelia M., Uitterlinden André G., de Jong Paulus T. V. M., Hofman Albert, ten Brink Jacoline B., Vingerling Johannes R., Klaver Caroline C. W., Dean Michael, Weber Bernhard H. F., Allikmets Rando, Hageman Gregory S., Bergen Arthur A. B. Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration Molecular vision 2012;18 (72):657-674 [PubMed]

2011

  • Mungrue Imran N., Zhao Peng, Yao Yucheng, Meng Haijin, Rau Christoph, Havel Jocelyn V., Gorgels Theo G. M. F., Bergen Arthur A. B., Maclellan W. Robb, Drake Thomas A., Boström Kristina I., Lusis Aldons J. Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model Arteriosclerosis, thrombosis, and vascular biology 2011;31 (12):2806-2812 [PubMed]
  • 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. Clinical course of cone dystrophy caused by mutations in the RPGR gene Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2011;249 (10):1527-1535 [PubMed]
  • Ramdas Wishal D., van Koolwijk Leonieke M. E., Lemij Hans G., Pasutto Francesca, Cree Angela J., Thorleifsson Gudmar, Janssen Sarah F., ten Brink Jacoline, Amin Najaf, Rivadeneira Fernando, Wolfs Roger C. W., Walters G. Bragi, Jonasson Fridbert, Weisschuh Nicole, Mardin Christian Y., Gibson Jane, Zegers Richard H. C., Hofman Albert, de Jong Paulus T. V. M., Uitterlinden André G., Oostra Ben A., Thorsteinsdottir Unnur, Gramer Eugen, Welgen-Lüßen Ulrich C., Kirwan James F., Bergen Arthur A. B., Reis André, Stefansson Kari, Lotery Andrew J., Vingerling Johannes R., Jansonius Nomdo M., Klaver Caroline C. W., van Duijn Cornelia M. Common genetic variants associated with open-angle glaucoma Human molecular genetics 2011;20 (12):2464-2471 [PubMed]
  • Kaimbo Dieudonne Kaimbo Wa, Mutosh Anne, Leys Anita, Parys-van Ginderdeuren Rita, Bergen A. A. B. Pseudoxanthoma elasticum: clinical, histologic, and genetic studies--a report of two sisters Skinmed 2011;9 (2):119-121 [PubMed]
  • Booij Judith C., Bakker Arne, Kulumbetova Jamilia, Moutaoukil Youssef, Smeets Bert, Verheij Joke, Kroes Hester Y., Klaver Caroline C. W., van Schooneveld Mary, Bergen Arthur A. B., Florijn Ralph J. 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-U268 [PubMed]
  • Klooster Jan, Blokker Joyce, ten Brink Jacoline B., Unmehopa Unga, Fluiter Kees, Bergen Arthur A. B., Kamermans Maarten Ultrastructural localization and expression of TRPM1 in the human retina Investigative ophthalmology & visual science 2011;52 (11):8356-8362 [PubMed]
  • 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. 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):1125-1135 [PubMed]

2010

  • Solouki Abbas M., Verhoeven Virginie J. M., van Duijn Cornelia M., Verkerk Annemieke J. M. H., Ikram M. Kamran, Hysi Pirro G., Despriet Dominiek D. G., van Koolwijk Leonieke M., Ho Lintje, Ramdas Wishal D., Czudowska Monika, Kuijpers Robert W. A. M., Amin Najaf, Struchalin Maksim, Aulchenko Yurii S., van Rij Gabriel, Riemslag Frans C. C., Young Terri L., Mackey David A., Spector Timothy D., Gorgels Theo G. M. F., Willemse-Assink Jacqueline J. M., Isaacs Aaron, Kramer Rogier, Swagemakers Sigrid M. A., Bergen Arthur A. B., van Oosterhout Andy A. L. J., Oostra Ben A., Rivadeneira Fernando, Uitterlinden André G., Hofman Albert, de Jong Paulus T. V. M., Hammond Christopher J., Vingerling Johannes R., Klaver Caroline C. W. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 Nature genetics 2010;42 (10):897-+ [PubMed]
  • Ramdas Wishal D., van Koolwijk Leonieke M. E., Ikram M. Kamran, Jansonius Nomdo M., de Jong Paulus T. V. M., Bergen Arthur A. B., Isaacs Aaron, Amin Najaf, Aulchenko Yurii S., Wolfs Roger C. W., Hofman Albert, Rivadeneira Fernando, Oostra Ben A., Uitterlinden Andre G., Hysi Pirro, Hammond Christopher J., Lemij Hans G., Vingerling Johannes R., Klaver Caroline C. W., van Duijn Cornelia M. A Genome-Wide Association Study of Optic Disc Parameters PLoS genetics 2010;6 (6):e1000978 [PubMed]
  • Booij Judith C., ten Brink Jacoline B., Swagemakers Sigrid M. A., Verkerk Annemieke J. M. H., Essing Anke H. W., van der Spek Peter J., Bergen Arthur A. B. A new strategy to identify and annotate human RPE-specific gene expression PLoS ONE 2010;5 (3):e9341 [PubMed]
  • Booij Judith C., Boon Camiel J. F., van Schooneveld Mary J., Brink Jacoline B. Ten, Bakker Arne, Jong Paulus T. V. M. de, Hoyng Carel B., Bergen Arthur A. B., Klaver Caroline C. W. Course of Visual Decline in Relation to the Best1 Genotype in Vitelliform Macular Dystrophy Ophthalmology 2010;117 (7):1415-1422 [PubMed]
  • Gorgels Theo G. M. F., Waarsing Jan H., de Wolf Anneke, ten Brink Jacoline B., Loves Willem J. P., Bergen Arthur A. B. Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum Journal of molecular medicine (Berlin, Germany) 2010;88 (5):467-475 [PubMed]
  • Booij Judith C. Function and pathology of the human retinal pigment epithelium 2010. 239p. ISBN 9789053352939. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Bergen A. A. B.)
  • Plomp Astrid S., Toonstra Johan, Bergen Arthur A. B., van Dijk Marijke R., de Jong Paulus T. V. M. 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):1049-1058 [PubMed]
  • Baas Dominique C., Ho Lintje, Ennis Sarah, Merriam Joanna E., Tanck Michael W. T., Uitterlinden André G., de Jong Paulus T. V. M., Cree Angela J., Griffiths Helen L., Rivadeneira Fernando, Hofman Albert, van Duijn Cornelia, Smith R. Theodore, Barile Gaetano R., Gorgels Theo G. M. F., Vingerling Johannes R., Klaver Caroline C. W., Lotery Andrew J., Allikmets Rando, Bergen Arthur A. B. The Complement Component 5 Gene and Age-Related Macular Degeneration Ophthalmology 2010;117 (3):500-511 [PubMed]
  • Booij J. C., Baas D. C., Beisekeeva J., Gorgels T. G. M. F., Bergen A. A. B. The dynamic nature of Bruch's membrane Progress in retinal and eye research 2010;29 (1):1-18 [PubMed]
  • 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. The ERCC6 Gene and Age-Related Macular Degeneration PLoS ONE 2010;5 (11):e13786 [PubMed]

2009

  • Plomp Astrid S. Clinical and genetic aspects of pseudoxanthoma elasticum 2009. 191p. ISBN 9789090242545. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Jong P. T. V. M., Bergen A. A. B.)
  • Despriet Dominiek D. G., van Duijn Cornelia M., Oostra Ben A., Uitterlinden Andre G., Hofman Albert, Wright Alan F., ten Brink Jacoline B., Bakker Arne, de Jong Paulus T. V. M., Vingerling Johannes R., Bergen Arthur A. B., Klaver Caroline C. W. Complement component C3 and risk of age-related macular degeneration Ophthalmology 2009;116 (3):474-480.e2 [PubMed]
  • 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. Functional annotation of the human retinal pigment epithelium transcriptome BMC genomics 2009;10 (1):164 [PubMed]
  • Allikmets Rando, Bergen Arthur A., Dean Michael, Guymer Robyn H., Hageman Gregory S., Klaver Caroline C., Stefansson Kari, Weber Bernhard H. Geographic atrophy in age-related macular degeneration and TLR3 New England journal of medicine 2009;360 (21):2252-4; author reply 2255-6 [PubMed]
  • 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 Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness American journal of human genetics 2009;85 (5):730-736 [PubMed]
  • Simonsz H. J., Florijn R. J., van Minderhout H. M., Bergen A. A. B., Kamermans M. Nightblindness-Associated Transient Tonic Downgaze (NATTD) in Infant Boys with Chin-Up Head Posture Strabismus 2009;17 (4):158-164 [PubMed]
  • Plomp Astrid S., Bergen Arthur A. B., Florijn Ralph J., Terry Sharon F., Toonstra Johan, van Dijk Marijke R., de Jong Paulus T. V. M. Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6 Genetics in medicine 2009;11 (12):852-858 [PubMed]
  • Allikmets Rando, Dean Michael, Hageman Gregory S., Baird Paul N., Klaver Caroline C., Bergen Arthur A., Weber Bernhard H. The SERPING1 gene and age-related macular degeneration Lancet 2009;374 (9693):875-876 [PubMed]

2008

  • Plomp Astrid S., Florijn Ralph J., ten Brink Jacoline, Castle Bruce, Kingston Helen, Martin-Santiago Ana, Gorgels Theo G. M. F., de Jong Paulus T. V. M., Bergen Arthur A. B. ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones Molecular vision 2008;14 (15):118-124 [PubMed]
  • Despriet Dominiek D. G., Bergen Arthur A. B., Merriam Joanna E., Zernant Jana, Barile Gaetano R., Smith R. Theodore, Barbazetto Irene A., van Soest Simone, Bakker Arne, de Jong Paulus T. V. M., Allikmets Rando, Klaver Caroline C. W. Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration Investigative ophthalmology & visual science 2008;49 (1):364-371 [PubMed]
  • Neidhardt John, Glaus Esther, Lorenz Birgit, Netzer Christian, Li Yuen, Schambeck Maria, Wittmer Mariana, Feil Silke, Kirschner-Schwabe Renate, Rosenberg Thomas, Cremers Frans P. M., Bergen Arthur A. B., Barthelmes Daniel, Baraki Husnia, Schmid Fabian, Tanner Gaby, Fleischhauer Johannes, Orth Ulrike, Becker Christian, Wegscheider Erika, Nuernberg Gudrun, Nuernberg Peter, Bolz Hanno Joern, Gal Andreas, Berger Wolfgang Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing Molecular vision 2008;14 (129):1081-1093 [PubMed]
  • Redeker Egbert J. W., de Visser Annette S. H., Bergen Arthur A. B., Mannens Marcel M. A. M. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders Molecular vision 2008;14 (97-99):836-840 [PubMed]
  • Klaver Caroline C. W., Bergen Arthur A. B. The SERPING1 gene and age-related macular degeneration Lancet 2008;372 (9652):1788-1789 [PubMed]

2007

  • Bergen Arthur A. B., Plomp Astrid S., Hu Xiaofeng, de Jong Paulus T. V. M., Gorgels Theo G. M. F. ABCC6 and pseudoxanthoma elasticum Pflugers Archiv 2007;453 (5):685-691 [PubMed]
  • van Soest Simone S., de Wit Gerard. M. J., Essing Anke H. W., ten Brink Jacoline B., Kamphuis Willem, de Jong Paulus T. V. M., Bergen Arthur A. B. Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane Molecular vision 2007;13 (179-82):1608-1617 [PubMed]
  • Dijk Frederike, Bergen Arthur A. B., Kamphuis Willem GAP-43 expression is upregulated in retinal ganglion cells after ischemia/reperfusion-induced damage Experimental eye research 2007;84 (5):858-867 [PubMed]
  • Kamphuis W., Dijk F., van Soest S., Bergen A. A. B. Global gene expression profiling of ischemic preconditioning in the rat retina Molecular vision 2007;13:1020-1030 [PubMed]
  • Kamphuis Willem, Dijk Frederike, Bergen Arthur A. B. Ischemic preconditioning alters the pattern of gene expression changes in response to full retinal ischemia Molecular vision 2007;13:1892-1901 [PubMed]
  • 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. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome Molecular and cellular biology 2007;27 (4):1433-1441 [PubMed]
  • Kamphuis Willem, Dijk Frederike, Kraan Willem, Bergen Arthur A. B. Transfer of lens-specific transcripts to retinal RNA samples may underlie observed changes in crystallin-gene transcript levels after ischemia Molecular vision 2007;13:220-228 [PubMed]

2006

  • Kardys Isabella, Klaver Caroline C. W., Despriet Dominiek D. G., Bergen Arthur A. B., Uitterlinden André G., Hofman Albert, Oostra Ben A., van Duijn Cornelia M., de Jong Paulus T. V. M., Witteman Jacqueline C. M. 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):1568-1575 [PubMed]
  • 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. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration JAMA 2006;296 (3):301-309 [PubMed]
  • Brinkmann J. F. F., Ottenheim C. P. E., Zegers R. H. C., de Jong P. T. V. M., Bergen A. A. B. Gene symbol: CYP1B1. Disease: Glaucoma, primary congenital. Accession #Hd0513 Human genetics 2006;118 (6):775 [PubMed]
  • Brinkmann J. F. F., Ottenheim C. P. E., Zegers R. H. C., de Jong P. T. V. M., Bergen A. A. B. Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541 Human genetics 2006;118 (6):779 [PubMed]
  • Florijn Ralph J., Loves Willem, Maillette de Buy Wenniger-Prick Liesbeth J. J. M., Mannens Marcel M. A. M., Tijmes Nel, Brooks Simon P., Hardcastle Alison J., Bergen Arthur A. B. New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands European journal of human genetics 2006;14 (9):986-990 [PubMed]
  • Bergen Arthur A. B. Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth Journal of investigative dermatology 2006;126 (4):704-705 [PubMed]
  • Lotery Andrew J., Baas Dominique, Ridley Caroline, Jones Richard P. O., Klaver Caroline C. W., Stone Edwin, Nakamura Tomoyuki, Luff Andrew, Griffiths Helen, Wang Tao, Bergen Arthur A. B., Trump Dorothy Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa Human mutation 2006;27 (6):568-574 [PubMed]

2005

  • Kamphuis Willem, Cailotto Cathy, Dijk Frederike, Bergen Arthur, Buijs Ruud M. Circadian expression of clock genes and clock-controlled genes in the rat retina Biochemical and biophysical research communications 2005;330 (1):18-26 [PubMed]
  • Gorgels Theo G. M. F., Hu Xiaofeng, Scheffer George L., van der Wal Allard C., Toonstra Johan, de Jong Paulus T. V. M., van Kuppevelt Toin H., Levelt Christiaan N., de Wolf Anneke, Loves Willem J. P., Scheper Rik J., Peek Ron, Bergen Arthur A. B. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum Human molecular genetics 2005;14 (13):1763-1773 [PubMed]
  • Booij J. C., Florijn R. J., ten Brink J. B., Loves W., Meire F., van Schooneveld M. J., de Jong P. T. V. M., Bergen A. A. B. 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--- [PubMed]
  • Wegman Jurgen J., Hu Xiaofeng, Tan Hendra, Bergen Arthur A. B., Trip Mieke D., Kastelein John J. P., Smulders Yvo M. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype International journal of cardiology 2005;100 (3):389-393 [PubMed]
  • Brinkman Joep F. F., Ottenheim Cecile P. E., de Jong Leo A. M. S., Zegers Richard H. C., de Smet Marc D., de Jong Paulus T. V. M., Bergen Arthur A. B. VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma Molecular vision 2005;11 (68):582-586 [PubMed]

2004

  • Plomp Astrid S., Hu Xiaofeng, de Jong Paulus T. V. M., Bergen Arthur A. B. Does autosomal dominant pseudoxanthoma elasticum exist? American journal of medical genetics. Part A 2004;126A (4):403-412 [PubMed]
  • Hu Xiaofeng, Plomp Astrid, Gorgels Theo, Brink Jacoline Ten, Loves Willem, Mannens Marcel, de Jong Paulus T. V. M., Bergen Arthur A. B. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum Genetic testing 2004;8 (3):292-300 [PubMed]
  • Hayashi M., Merriam J. E., Klaver C. C. W., Zernant J., Bergen A. A., Smith R. T., Chang S., Merriam J. C., Allikmets R. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1 Ophthalmic genetics 2004;25 (2):111-119 [PubMed]
  • Kornet Lilian, Bergen Arthur A. B., Hoeks Arnold P. G., Cleutjens Jacques P., Oostra Roelof-Jan, Daemen Mat J., van Soest Simone, Reneman Robert S. 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):1041-1048 [PubMed]
  • Bergen A. A. B., Leschot N. J., Hulsman C. A. A., de Smet M. D., de Jong P. T. V. M. Van gen naar ziekte; primair openkamerhoekglaucoom en 3 bekende genen: MYOC, CYP1B1 en OPTN Nederlands tijdschrift voor geneeskunde 2004;148 (27):1343-ev [PubMed]
  • Bergen A. A. B., Plomp A. S., Gorgels T. G. M. F., de Jong P. T. V. M. Van gen naar ziekte; pseudoxanthoma elasticum en het ABCC6-gen Nederlands tijdschrift voor geneeskunde 2004;148 (32):1586-1589 [PubMed]

2003

  • Hu Xiaofeng, Plomp Astrid, Wijnholds Jan, ten Brink Jacoline, van Soest Simone, van den Born L. Ingeborgh, Leys Anita, Peek Ron, de Jong Paulus T. V. M., Bergen Arthur A. B. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum European journal of human genetics 2003;11 (3):215-224 [PubMed]
  • Hu Xiaofeng, Peek Ron, Plomp Astrid, ten Brink Jacoline, Scheffer George, van Soest Simone, Leys Anita, de Jong Paulus T. V. M., Bergen Arthur A. B. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum Investigative ophthalmology & visual science 2003;44 (5):1824-1829 [PubMed]
  • van Lith-Verhoeven Janneke J. C., van den Helm Bellinda, Deutman August F., Bergen Arthur A. B., Cremers Frans P. M., Hoyng Carel B., de Jong Paulus T. V. M. 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):1452-1457 [PubMed]
  • Hu Xiaofeng, Plomp Astrid S., van Soest Simone, Wijnholds Jan, de Jong Paulus T. V. M., Bergen Arthur A. B. Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update Survey of ophthalmology 2003;48 (4):424-438 [PubMed]
  • Sinkó Emese, Iliás Attila, Ujhelly Olga, Homolya László, Scheffer George L., Bergen Arthur A. B., Sarkadi Balázs, Váradi András Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells Biochemical and biophysical research communications 2003;308 (2):263-269 [PubMed]

2002

  • Hulsman C. A. A., Willemse-Assink J. J. M., de Jong P. T. V. M., Lettink M., Sandkuijl L. A., Bergen A. A. B. Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population Clinical genetics 2002;61 (2):160-162 [PubMed]
  • Trip Mieke D., Smulders Yvo M., Wegman Jurgen J., Hu Xiaofeng, Boer Jolanda M. A., ten Brink Jacoline B., Zwinderman Aeilko H., Kastelein John J. P., Feskens Edith J. M., Bergen Arthur A. B. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease Circulation 2002;106 (7):773-775 [PubMed]
  • Scheffer George L., Hu Xiaofeng, Pijnenborg Adriana C. L. M., Wijnholds Jan, Bergen Arthur A. B., Scheper Rik J. MRP6 (ABCC6) detection in normal human tissues and tumors Laboratory investigation; a journal of technical methods and pathology 2002;82 (4):515-518 [PubMed]
  • Hulsman Caroline A. A., de Jong Paulus T. V. M., Lettink Marjolein, van Duijn Cornelia M., Hofman Albert, Bergen Arthur A. B. 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 fur klinische und experimentelle Ophthalmologie 2002;240 (6):468-474 [PubMed]
  • Plomp A. S., Bergen A. A. B., Hulsman C. A. A., de Jong P. T. V. M. Veranderende visie op erfelijke oogaandoeningen Nederlands tijdschrift voor geneeskunde 2002;146 (8):345-350 [PubMed]

2001

  • de Jong P. T., Bergen A. A., Klaver C. C., van Duijn C. M., Assink J. M. Age-related maculopathy: its genetic basis Eye (London, England) 2001;15 (Part 3):396-400 [PubMed]
  • Boycott K. M., Maybaum T. A., Naylor M. J., Weleber R. G., Robitaille J., Miyake Y., Bergen A. A., Pierpont M. E., Pearce W. G., Bech-Hansen N. T. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants Human genetics 2001;108 (2):91-97 [PubMed]
  • Bassi M. T., Bergen A. A., Bitoun P., Charles S. J., Clementi M., Gosselin R., Hurst J., Lewis R. A., Lorenz B., Meitinger T., Messiaen L., Ramesar R. S., Ballabio A., Schiaffino M. V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America Human genetics 2001;108 (1):51-54 [PubMed]

2000

  • Allikmets R., Tammur J., Hutchinson A., Lewis R. A., Shroyer N. F., Dalakishvili K., Lupski J. R., Steiner K., Pauleikhoff D., Holz F. G., Weber B. H.F., Dean M., Atkinson A., Gail M. H., Bernstein P. S., Singh N., Zabriskie N., Peiffer A., Leppert M., Seddon J. M., Zhang K., Sunness J. S., Udar N. S., Yelchits S., Silva-Garcia R., Small K. W., Simonelli F., Testa F., D'Urso M., Brancato R., Rinaldi E., Ingvast S., Taube A., Wadelius C., Souied E., Ducroq D., Kaplan J., Assink J. J.M., Ten Brink J. B., De Jong P. T.V.M., Bergen A. A.B., Maugeri A., Van Driel M. A., Hoyng C. B., Cremers F. P.M., Paloma E., Coco R., Balcells S., Gonzalez- Duarte R., Kermani S. Further evidence for an association of ABCR alleles with age-related macular degeneration American journal of human genetics 2000;67 (2):487-491 [PubMed]
  • Bergen A. A., Plomp A. S., Schuurman E. J., Terry S., Breuning M., Dauwerse H., Swart J., Kool M., van Soest S., Baas F., ten Brink J. B., de Jong P. T. Mutations in ABCC6 cause pseudoxanthoma elasticum Nature genetics 2000;25 (2):228-231 [PubMed]
  • Bech-Hansen N. T., Naylor M. J., Maybaum T. A., Sparkes R. L., Koop B., Birch D. G., Bergen A. A., Prinsen C. F., Polomeno R. C., Gal A., Drack A. V., Musarella M. A., Jacobson S. G., Young R. S., Weleber R. G. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness Nature genetics 2000;26 (3):319-323 [PubMed]
  • Assink J. J., de Backer E., ten Brink J. B., Kohno T., de Jong P. T., Bergen A. A., Meire F. Sorsby fundus dystrophy without a mutation in the TIMP-3 gene British journal of ophthalmology 2000;84 (7):682-686 [PubMed]

1999

  • Dry K. L., Manson F. D., Lennon A., Bergen A. A., van Dorp D. B., Wright A. F. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3) Human mutation 1999;13 (2):141-145 [PubMed]
  • van Soest S., van Rossem M. J., Heckenlively J. R., van den Born L. I., de Meulemeester T. M., Vliex S., de Jong P. T., Bleeker-Wagemakers E. M., Westerveld A., Bergen A. A. 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):22-27 [PubMed]
  • den Hollander A. I., ten Brink J. B., de Kok Y. J., van Soest S., van den Born L. I., van Driel M. A., van de Pol D. J., Payne A. M., Bhattacharya S. S., Kellner U., Hoyng C. B., Westerveld A., Brunner H. G., Bleeker-Wagemakers E. M., Deutman A. F., Heckenlively J. R., Cremers F. P., Bergen A. A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) Nature genetics 1999;23 (2):217-221 [PubMed]
  • Le Saux O., Urban Z., Göring H. H., Csiszar K., Pope F. M., Richards A., Pasquali-Ronchetti I., Terry S., Bercovitch L., Lebwohl M. G., Breuning M., van den Berg P., Kornet L., Doggett N., Ott J., de Jong P. T., Bergen A. A., Boyd C. D. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 Genomics 1999;62 (1):1-10 [PubMed]
  • van Soest S., Westerveld A., de Jong P. T., Bleeker-Wagemakers E. M., Bergen A. A. Retinitis pigmentosa: defined from a molecular point of view Survey of ophthalmology 1999;43 (4):321-334 [PubMed]
  • Maugeri A., van Driel M. A., van de Pol D. J., Klevering B. J., van Haren F. J., Tijmes N., Bergen A. A., Rohrschneider K., Blankenagel A., Pinckers A. J., Dahl N., Brunner H. G., Deutman A. F., Hoyng C. B., Cremers F. P. 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):1024-1035 [PubMed]
  • Bakall B., Marknell T., Ingvast S., Koisti M. J., Sandgren O., Li W., Bergen A. A., Andreasson S., Rosenberg T., Petrukhin K., Wadelius C. The mutation spectrum of the bestrophin protein--functional implications Human genetics 1999;104 (5):383-389 [PubMed]

1998

  • Cremers F. P., van de Pol D. J., van Driel M., den Hollander A. I., van Haren F. J., Knoers N. V., Tijmes N., Bergen A. A., Rohrschneider K., Blankenagel A., Pinckers A. J., Deutman A. F., Hoyng C. B. 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):355-362 [PubMed]
  • van de Vosse E., Walpole S. M., Nicolaou A., van der Bent P., Cahn A., Vaudin M., Ross M. T., Durham J., Pavitt R., Wilkinson J., Grafham D., Bergen A. A., van Ommen G. J., Yates J. R., den Dunnen J. T., Trump D. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes Genomics 1998;49 (1):96-102 [PubMed]
  • Den Dunnen Johan T., Kraayenbrink Thirsa, Van Schooneveld Mary, Van Vosse Esther De, De Jong Paulus T.V.M., Ten Brink Jacoline B., Schuurman Ellen, Tijmes Nel, Van Ommen Gen Jan B., Bergen Arthur A.B., Andolfi Grazia, Montini Eugenio, Li Yün, Oudet Claudine, Bolz Hanno, Kaplan Josselyne, Orth Ulrike, Gal Andreas, Hanauer Andre, Bardelli Anna Maria, Ayuso Carmen, Bitoun Pierre, Ventruto Valerio, Dallapiccola Bruno, Ballabio Andrea, Franco Brunella, Hiriyanna K. T., Bingham Eve L., McHenry Christina, Pawar Hemant, Coats Caraline, Darga Thomas, Richards Julia E., Sieving Paul A., Huopaniemi Laura, Rantala Anne, Rosenberg Thomas, Dahl Niklas, Wright Alan, De La Chapelle Albert, Alitalo Tiina, Lenzner Steffen, Brunner Bodo, Feil Silke, Niesler Beate, Schulz Ute, Pinckers Alfred, Blankennagel Anita, Ruether Klaus, Kellner Ulrich Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) Human molecular genetics 1998;7 (7):1185-1192 [PubMed]
  • Petrukhin K., Koisti M. J., Bakall B., Li W., Xie G., Marknell T., Sandgren O., Forsman K., Holmgren G., Andreasson S., Vujic M., Bergen A. A., McGarty-Dugan V., Figueroa D., Austin C. P., Metzker M. L., Caskey C. T., Wadelius C. Identification of the gene responsible for Best macular dystrophy Nature genetics 1998;19 (3):241-247 [PubMed]
  • Tijmes N. T., Bergen A. A. B., de Jong P. T. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene British journal of ophthalmology 1998;82 (4):457-458 [PubMed]
  • Schwahn U., Lenzner S., Dong J., Feil S., Hinzmann B., van Duijnhoven G., Kirschner R., Hemberger M., Bergen A. A., Rosenberg T., Pinckers A. J., Fundele R., Rosenthal A., Cremers F. P., Ropers H. H., Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 2 Nature genetics 1998;19 (4):327-332 [PubMed]
  • Bergen A. A., Pinckers A. J. Reply to Inglehearn American journal of human genetics 1998;63 (4):1232-1234 [PubMed]

1997

  • Assink J. J., Tijmes N. T., ten Brink J. B., Oostra R. J., Riemslag F. C., de Jong P. T., Bergen A. A. 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):934-939 [PubMed]
  • van Soest S., Swart J., Tijmes N., Sandkuijl L. A., Rommers J., Bergen A. A. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1 Genome research 1997;7 (8):830-834 [PubMed]
  • van de Vosse E., Franco B., van der Bent P., Montini E., Orth U., Hanauer A., Tijmes N., van Ommen G. J., Ballabio A., den Dunnen J. T., Bergen A. A. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis Human genetics 1997;101 (2):235-237 [PubMed]
  • Bergen A. A., Pinckers A. J. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity American journal of human genetics 1997;60 (6):1468-1473 [PubMed]

1996

  • van de Vosse E., Bergen A. A., Meershoek E. J., Oosterwijk J. C., Gregory S., Bakker B., Weissenbach J., Coffey A. J., van Ommen G. J., den Dunnen J. T. 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 1996;4 (2):101-104 [PubMed]
  • Bergen A. A.B., Ten Brink J., Riemslag F., Van Soest S., Schuurman E., Meire F., Tijmes N., De Jong P. T.V.M. Are X-linked congenital stationary night blindness and X-linked retinitis pigmentosa genetically allelic? Investigative ophthalmology & visual science 1996;37 (3):S997
  • Bergen A. A., ten Brink J. B., Riemslag F., Schuurman E. J., Meire F., Tijmes N., de Jong P. T. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1 Journal of medical genetics 1996;33 (10):869-872 [PubMed]
  • van Soest S., te Nijenhuis S., van den Born L. I., Bleeker-Wagemakers E. M., Sharp E., Sandkuijl L. A., Westerveld A., Bergen A. A. 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):81-85 [PubMed]
  • Roepman R., van Duijnhoven G., Rosenberg T., Pinckers A. J., Bleeker-Wagemakers L. M., Bergen A. A., Post J., Beck A., Reinhardt R., Ropers H. H., Cremers F. P., Berger W. 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):1035-1041 [PubMed]

1995

  • Schiaffino M. V., Bassi M. T., Galli L., Renieri A., Bruttini M., de Nigris F., Bergen A. A., Charles S. J., Yates J. R., Meindl A. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism Human molecular genetics 1995;4 (12):2319-2325 [PubMed]
  • Bassi M. T., Schiaffino M. V., Renieri A., de Nigris F., Galli L., Bruttini M., Gebbia M., Bergen A. A., Lewis R. A., Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome Nature genetics 1995;10 (1):13-19 [PubMed]
  • Bergen A. A., ten Brink J. B., van Schooneveld M. J. Efficient DNA carrier detection in X linked juvenile retinoschisis British journal of ophthalmology 1995;79 (7):683-686 [PubMed]
  • Bergen A. A., ten Brink J. B., Riemslag F., Schuurman E. J., Tijmes N. 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):931-935 [PubMed]
  • Houwing-Duistermaat J. J., Sandkuijl L. A., Bergen A. A., van Houwelingen H. C. Maximum-likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm Genetic epidemiology 1995;12 (5):515-527 [PubMed]
  • Bergen A. A., van den Born L. I., Schuurman E. J., Pinckers A. J., van Ommen G. J., Bleekers-Wagemakers E. M., Sandkuijl L. A. Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families Ophthalmic genetics 1995;16 (2):63-70 [PubMed]

1994

  • van Soest S., van den Born L. I., Gal A., Farrar G. J., Bleeker-Wagemakers L. M., Westerveld A., Humphries P., Sandkuijl L. A., Bergen A. A. 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 [PubMed]
  • Bassi M. T., Bergen A. A., Wapenaar M. C., Schiaffino M. V., van Schooneveld M., Yates J. R., Charles S. J., Meitinger T., Ballabio A. A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1) Human molecular genetics 1994;3 (4):647-648 [PubMed]
  • Bergen A. A., Meire F., Schuurman E. J., Delleman J. W. DNA carrier detection in X-linked progressive cone dystrophy Clinical genetics 1994;45 (5):236-240 [PubMed]
  • Bergen A. A., Kestelyn P., Leys M., Meire F. Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB Journal of medical genetics 1994;31 (7):580-582 [PubMed]
  • Bergen A. A., ten Brink J., Schuurman E. J., Bleeker-Wagemakers E. M. Nance-Horan syndrome: linkage analysis in a family from The Netherlands Genomics 1994;21 (1):238-240 [PubMed]
  • Bergen A. A., ten Brink J. B., Bleeker-Wagemakers L. M., van Schooneveld M. J. Refinement of the chromosomal position of the X linked juvenile retinoschisis gene Journal of medical genetics 1994;31 (12):972-975 [PubMed]
  • Meire F. M., Bergen A. A., de Rouck A., Leys M., Delleman J. W. X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis British journal of ophthalmology 1994;78 (2):103-108 [PubMed]

1993

  • Bergen A. A., Meire F., ten Brink J., Schuurman E. J., van Ommen G. J., Delleman J. W. Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3 Genomics 1993;18 (2):463-464 [PubMed]
  • Bergen A. A., Wapenaar M. C., Schuurman E. J., Diergaarde P. J., Lerach H., Monaco A. P., Bakker E., Bleeker-Wagemakers E. M., van Ommen G. J. 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):231-235 [PubMed]
  • Bergen A. A., van Schooneveld M. J., Orth U., Bleeker-Wagemakers E. M., Gal A. Multipoint linkage analysis in X-linked juvenile retinoschisis Clinical genetics 1993;43 (3):113-116 [PubMed]
  • Bergen A. A., Zijp P., Schuurman E. J., Bleeker-Wagemakers E. M., Apkarian P., van Ommen G. J. Refinement of the localization of the X-linked ocular albinism gene Genomics 1993;16 (1):272-273 [PubMed]

1992

  • van den Born L. I., Bergen A. A., Bleeker-Wagemakers E. M. A retrospective study of registered retinitis pigmentosa patients in The Netherlands Ophthalmic paediatrics and genetics 1992;13 (4):227-236 [PubMed]
  • Bergen A. A., Schuurman E. J., van den Born L. I., Samanns C., van Dorp D. B., Pinckers A. J., Bakker E., van Ommen G. J., Gal A., Bleeker-Wagemakers E. M. Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis Clinical genetics 1992;41 (3):135-138 [PubMed]
  • Bleeker-Wagemakers L. M., Gal A., Kumar-Singh R., van den Born L. I., Li Y., Schwinger E., Sandkuijl L. A., Bergen A. A., Kenna P., Humphries P. Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa Genomics 1992;14 (3):811-812 [PubMed]
  • Berger W., Meindl A., van de Pol T. J., Cremers F. P., Ropers H. H., Döerner C., Monaco A., Bergen A. A., Lebo R., Warburg M. Isolation of a candidate gene for Norrie disease by positional cloning Nature genetics 1992;1 (3):199-203 [PubMed]
  • Berger W., Meindl A., van de Pol T. J., Cremers F. P., Ropers H. H., Döerner C., Monaco A., Bergen A. A., Lebo R., Warburgh M. Isolation of a candidate gene for Norrie disease by positional cloning Nature genetics 1992;2 (1):84 [PubMed]

1991

  • Bergen A. A., Platje E. J., Craig I., Bakker E., Bleeker-Wagemakers E. M., van Ommen G. J. 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 [PubMed]
  • Bergen A. A., Samanns C., Schuurman E. J., van Osch L., van Dorp D. B., Pinckers A. J., Bakker E., Gal A., van Ommen G. J., Bleeker-Wagemakers E. M. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type Human genetics 1991;88 (2):162-166 [PubMed]

1990

  • Bergen A. A., Samanns C., van Dorp D. B., Ferguson-Smith M. A., Gal A., Bleeker-Wagemakers E. M. 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):165-170 [PubMed]

1987

  • Arveiler B., Hofker M. H., Bergen A. A., Mandel J. L. A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12 Nucleic acids research 1987;15 (14):5903 [PubMed]
  • Hofker M. H., Bergen A. A., Skraastad M. I., Carpenter N. J., Veenema H., Connor J. M., Bakker E., van Ommen G. J., Pearson P. L. 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):312-328 [PubMed]

1986

  • Hofker M. H., Bergen A. A., Skraastad M. I., Bakker E., Francke U., Wieringa B., Bartley J., van Ommen G. J., Pearson P. L. 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):275-279 [PubMed]
  • Hofker M. H., Skraastad M. I., Bergen A. A., Wapenaar M. C., Bakker E., Millington-Ward A., van Ommen G. J., Pearson P. L. The X chromosome shows less genetic variation at restriction sites than the autosomes American journal of human genetics 1986;39 (4):438-451 [PubMed]
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