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2020

A Systematic Review on Transplantation Studies of the Retinal Pigment Epithelium in Animal Models

Koster, C., Wever, K. E., Wagstaff, P. E., Hirk, K. T. V. D., Hooijmans, C. R. & Bergen, A. A., 2020, In : International Journal of Molecular Sciences. 21, 8, E2719.

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Clinical characteristics and natural history of rho-associated retinitis pigmentosa. A Long-Term Follow-Up Study

Nguyen, X-T-A., Talib, M., van Cauwenbergh, C., van Schooneveld, M. J., Fiocco, M., Wijnholds, J., Ten Brink, J. B., Florijn, R. J., Schalij-Delfos, N. E., Dagnelie, G., van Genderen, M. M., de Baere, E., Meester-Smoor, M. A., De Zaeytijd, J., Balikova, I., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., van den Born, L. I., Bergen, A. A. & 2 others, Leroy, B. P. & Boon, C. J. F., 2020, In : Retina.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Lo Faro, V., Siddiqui, S. N., Khan, M. I., Villanueva-Mendoza, C., Cortés-González, V., Jansonius, N., Bergen, A. A. B. & Micheal, S., 2020, In : Molecular genetics & genomic medicine. p. e1215

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RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

Nguyen, X-T-A., Talib, M., van Schooneveld, M. J., Brinks, J., Ten Brink, J., Florijn, R. J., Wijnholds, J., Verdijk, R. M., Bergen, A. A. & Boon, C. J. F., 2020, In : International Journal of Molecular Sciences. 21, 3

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The circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1)

Milićević, N., Ten Brink, J. B., Ten Asbroek, A. L. M. A., Bergen, A. A. & Felder-Schmittbuhl, M-P., 2020, In : Experimental Eye Research. 190, p. 107861

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2019

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

Ibold, B., Faust, I., Tiemann, J., Gorgels, T. G. M. F., Bergen, A. A. B., Knabbe, C. & Hendig, D., Jan 2019, In : Lipids in Health and Disease. 18, 1, p. 2

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CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

Talib, M., van Schooneveld, M. J., Thiadens, A. A., Fiocco, M., Wijnholds, J., Florijn, R. J., Schalij-Delfos, N. E., van Genderen, M. M., Putter, H., Cremers, F. P. M., Dagnelie, G., Ten Brink, J. B., Klaver, C. C. W., van den Born, L. I., Hoyng, C. B., Bergen, A. A. & Boon, C. J. F., 2019, In : Retina. 39, p. 1186-1199

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Does the circadian clock make RPE-mediated ion transport "tick" via SLC12A2 (NKCC1)?

Milićević, N., Duursma, A., Ten Asbroek, A. L. M. A., Felder-Schmittbuhl, M-P. & Bergen, A. A., 2019, In : Chronobiology International. 36, 11, p. 1592-1598 7 p.

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Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

Talib, M., van Schooneveld, M. J., van Duuren, R. J. G., Van Cauwenbergh, C., Ten Brink, J. B., De Baere, E., Florijn, R. J., Schalij-Delfos, N. E., Leroy, B. P., Bergen, A. A. & Boon, C. J. F., 2019, In : Translational Vision Science & Technology. 8, 4, p. 24

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Open Access

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

Verbakel, S. K., van Huet, R. A. C., den Hollander, A. I., Geerlings, M. J., Kersten, E., Klevering, B. J., Klaver, C. C. W., Plomp, A. S., Wesseling, N. L., Bergen, A. A. B., Nikopoulos, K., Rivolta, C., Ikeda, Y., Sonoda, K-H., Wada, Y., Boon, C. J. F., Nakazawa, T., Hoyng, C. B. & Nishiguchi, K. M., 2019, In : Investigative Ophthalmology & Visual Science. 60, 4, p. 1192-1203 12 p.

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Open Access

On the origin of proteins in human drusen: The meet, greet and stick hypothesis

Bergen, A. A., Arya, S., Koster, C., Pilgrim, M. G., Wiatrek-Moumoulidis, D., van der Spek, P., Hauck, S. M., Boon, C. J. F., Emri, E., Stewart, A. J. & Lengyel, I., 2019, In : Progress in Retinal and Eye Research. 70, p. 55-84

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2018

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

den Haan, J., Morrema, T. H. J., Verbraak, F. D., de Boer, J. F., Scheltens, P., Rozemuller, A. J., Bergen, A. A. B., Bouwman, F. H. & Hoozemans, J. J., Oct 2018, In : Acta neuropathologica communications. 6, 1, p. 147

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

Micheal, S., Niewold, I. T. G., Siddiqui, S. N., Zafar, S. N., Khan, M. I. & Bergen, A. A. B., 2018, In : Genes. 9, 2, E112.

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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Tedja, M. S., Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., Meester-Smoor, M. A., Tompson, S. W., Fan, Q., Khawaja, A. P., Cheng, C-Y., Höhn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., Jonas, J. B. & 78 others, Wang, Y. X., Xie, J., Mitchell, P., Foster, P. J., Klein, B. E. K., Klein, R., Paterson, A. D., Hosseini, S. M., Shah, R. L., Williams, C., Teo, Y-Y., Tham, Y. C., Gupta, P., Zhao, W., Shi, Y., Saw, W-Y., Tai, E-S., Sim, X. L., Huffman, J. E., Polašek, O., Hayward, C., Bencic, G., Rudan, I., Wilson, J. F., Joshi, P. K., Tsujikawa, A., Matsuda, F., Whisenhunt, K. N., Zeller, T., Van der Spek, P. J., Haak, R., Meijers-Heijboer, H., van Leeuwen, E. M., Iyengar, S. K., Lass, J. H., Hofman, A., Rivadeneira, F., Uitterlinden, A. G., Vingerling, J. R., Lehtimaki, T., Raitakari, O. T., Biino, G., Concas, M. P., Schwantes-An, T. H., Igo, R. P., Cuellar-Partida, G., Martin, N. G., Craig, J. E., Gharahkhani, P., Williams, K. M., Naq, A., Rahi, J. S., Cumberland, P. M., Delcourt, C., Bellenquez, C., Ried, J. S., Bergen, A. A., Meitinger, T., Gieger, C., Wong, T. Y., Hewitt, A. W., Mackey, D. A., Simpson, C. L., Pfeiffer, N., Parssinen, O., Baird, P. N., Vitart, V., Amin, N., Van Duijn, C. M., Bailey-Wilson, J. E., Young, T. L., Saw, S. M., Stambolian, D., MacGregor, S., Guggenheim, J. A., Tung, J. Y., Hammond, C. J. & Klaver, C. C. W., 2018, In : Nature Genetics. 50, 6, p. 834-848 15 p.

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LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION

van Schuppen, S. M., Talib, M., Bergen, A. A., Ten Brink, J. B., Florijn, R. J., Boon, C. J. F. & van Schooneveld, M. J., 2018, In : Retina. 38, p. 1713-1724

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The phenotypic spectrum of albinism

Kruijt, C., de Wit, G. C., Bergen, A. A., Florijn, R. J., Schalij-Delfos, N. E. & van Genderen, M. M., 2018, In : Ophthalmology. 125, p. 1953-1960

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The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

Talib, M., van Schooneveld, M. J., Van Cauwenbergh, C., Wijnholds, J., Ten Brink, J. B., Florijn, R. J., Schalij-Delfos, N. E., Dagnelie, G., van Genderen, M. M., de Baere, E., Meester-Smoor, M. A., de Zaeytijd, J., Cremers, F. P. M., van den Born, L. I., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., Leroy, B. P., Bergen, A. A. & Boon, C. J. F., 2018, In : Investigative Ophthalmology & Visual Science. 59, 10, p. 4123-4133 11 p.

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2017

Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium

Bennis, A., Ten Brink, J. B., Moerland, P. D., Heine, V. M. & Bergen, A. A., 2017, In : PLoS One. 12, 8, e0182983.

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Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study

Talib, M., van Schooneveld, M. J., van Genderen, M. M., Wijnholds, J., Florijn, R. J., Ten Brink, J. B., Schalij-Delfos, N. E., Dagnelie, G., Cremers, F. P. M., Wolterbeek, R., Fiocco, M., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., Bergen, A. A. & Boon, C. J. F., 2017, In : Ophthalmology. 124, p. 884-895

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

Mathijssen, I. B., Florijn, R. J., van den Born, L. I., Zekveld-Vroon, R. C., Ten Brink, J. B., Plomp, A. S., Baas, F., Meijers-Heijboer, H., Bergen, A. A. B. & van Schooneveld, M. J., 2017, In : Retina. 37, p. 161-172

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Nicotinamide, iRPE-in-a dish, and age-related macular degeneration therapy development

Bergen, A. A., 2017, In : Stem Cell Investigation. 4, 81.

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Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium

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., 2017, In : Stem Cell Reviews and Reports. 13, p. 659-669

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2016

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

van Dijk, E. H. C., Duits, D. E. M., Versluis, M., Luyten, G. P. M., Bergen, A. A. B., Kapiteijn, E. W., de Lange, M. J., Boon, C. J. F. & van der Velden, P. A., 2016, In : Medicine (Baltimore). 95, 18, p. e3457

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Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

Pierrache, L. H. M., Hartel, B. P., van Wijk, E., Meester-Smoor, M. A., Cremers, F. P. M., de Baere, E., de Zaeytijd, J., van Schooneveld, M. J., Cremers, C. W. R. J., Dagnelie, G., Hoyng, C. B., Bergen, A. A., Leroy, B. P., Pennings, R. J. E., van den Born, L. I. & Klaver, C. C. W., 2016, In : Ophthalmology. 123, 5, p. 1151-60 10 p.

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2015

Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular Degeneration

Bennis, A., Gorgels, T. G. M. F., Ten Brink, J. B., van der Spek, P. J., Bossers, K., Heine, V. M. & Bergen, A. A., 2015, In : PLoS One. 10, 10, p. e0141597

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Cyclosporine A Treatment Inhibits Abcc6-Dependent Cardiac Necrosis and Calcification following Coxsackievirus B3 Infection in Mice

Marton, J., Albert, D., Wiltshire, S. A., Park, R., Bergen, A. A. B., Qureshi, S., Malo, D., Burelle, Y. & Vidal, S. M., 2015, In : PLoS One. 10, 9, p. e0138222

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Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease

Bergen, A. A., Kaing, S., Ten Brink, J. B., Gorgels, T. G. & Janssen, S. F., 2015, In : BMC Genomics. 16, 1, p. 956

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2014

ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report

Jansen, R. S., Duijst, S., Mahakena, S., Sommer, D., Szeri, F., Váradi, A., Plomp, A. S., Bergen, A. A., Oude Elferink, R. P. J., Borst, P. & van de Wetering, K., Sep 2014, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 34, 9, p. 1985-9 5 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Alzheimer's disease and glaucoma-reply

Janssen, S. F., Gorgels, T. G. M. F., Ramdas, W. D., Klaver, C. C. W., van Duijn, C. M., Jansonius, N. M. & Bergen, A. A. B., Mar 2014, In : Progress in Retinal and Eye Research. 39, p. 108-10 3 p.

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Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum

Kauffenstein, G., 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., May 2014, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 34, 5, p. 1045-56 12 p.

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Gene expression-based comparison of the human secretory neuroepithelia of the brain choroid plexus and the ocular ciliary body: potential implications for glaucoma

Janssen, S. F., Gorgels, T. G., Ten Brink, J. B., Jansonius, N. M. & Bergen, A. A., 2014, In : Fluids and Barriers of the CNS. 11, 1, p. 2

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

Janssen, S. F., Bennis, A., Heine, V. M. & Bergen, A. A. B., Apr 2014, In : Experimental Eye Research. 121, p. 41

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Springelkamp, H., Höhn, R., Mishra, A., Hysi, P. G., Khor, C-C., Loomis, S. J., Bailey, J. N. C., Gibson, J., Thorleifsson, G., Janssen, S. F., Luo, X., Ramdas, W. D., Vithana, E., Nongpiur, M. E., Montgomery, G. W., Xu, L., Mountain, J. E., Gharahkhani, P., Lu, Y., Amin, N. & 30 others, Karssen, L. C., Sim, K-S., van Leeuwen, E. M., Iglesias, A. I., Verhoeven, V. J. M., Hauser, M. A., Loon, S-C., Despriet, D. D. G., Nag, A., Venturini, C., Sanfilippo, P. G., Schillert, A., Kang, J. H., Landers, J., Jonasson, F., Cree, A. J., van Koolwijk, L. M. E., Rivadeneira, F., Souzeau, E., Jonsson, V., Menon, G., Weinreb, R. N., de Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Hofman, A., Ennis, S., Thorsteinsdottir, U., Burdon, K. P. & Bergen, A. A. B., 2014, In : Nature Communications. 5, p. 4883

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

Kariminejad, A., Bozorgmehr, B., Najafi, A., Khoshaeen, A., Ghalandari, M., Najmabadi, H., Kariminejad, M. H., Vanakker, O. M., Hosen, M. J., Malfait, F., Quaglino, D., Florijn, R. J., Bergen, A. A. B. & Hennekam, R. C., Sep 2014, In : Journal of Investigative Dermatology. 134, 9, p. 2331-8 8 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury

Brampton, C., Aherrahrou, Z., Chen, L-H., Martin, L., Bergen, A. A. B., Gorgels, T. G. M. F., Erdmann, J., Erdfdi, J., Schunkert, H., Szabó, Z., Váradi, A. & Le Saux, O., Jan 2014, In : The American journal of pathology. 184, 1, p. 159-70 12 p.

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2013

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

Jansen, R. S., Kucukosmanoglu, A., De Haas, M., Sapthu, S., Otero, J. A., Hegman, I. E. M., Bergen, A. A. B., Gorgels, T. G. M. F., Borst, P. & Van de Wetering, K., 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, p. 20206-20211

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Boon, C. J., Van den Born, L. I., Visser, L., Keunene, J. E., Bergen, A. A. B., Booij, J. C., Riemslag, F. C., Florijn, R. J. & Van Schooneveld, M. J., 2013, In : Ophthalmology. 120, p. 809-820

Research output: Contribution to journal/periodicalArticleScientificpeer-review

COmplement factor 3a alters proteasome function in human RPE cells and in animal model of age-related RPE degeneration.

Ramos de Carvalho, J. E., Klaassen, I., Vogels, I. M. C., Schipper-Krom, S., Van Noorden, C. J., Reits, E. A., Gorgels, T. G. M. F., Bergen, A. A. B. & Schlingemann, R. O., 2013, In : Investigative Ophthalmology & Visual Science. 54, p. 6489-6501

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Expanded clinical spectrum of enhanced S-cone syndrome.

Yzer, S., Barbazetto, I. A., Allikmets, R., Van Schooneveld, M. J., Bergen, A. A. B., Tsang, S. H., Jacobson, S. G. & Yannuzzi, L. A., 2013, In : JAMA Ophthalmology. 131, p. 1324-1330

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Janssen, S. F., Van der Spek, S. J., Ten Brink, J. B., Essing, A. H., Gorgels, T. G. M. F., Van der Spek, P. J., Jansonius, N. M. & Bergen, A. A. B., 2013, In : PLoS One. 8, p. 83345

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Verhoeven, V. J. M., Hysi, P., Wojciechowski, R., Gorgels, T. G. M. F., Bergen, A. A. B., Klaver, C. C. & Hammond, C. J., 2013, In : Nature Genetics. 45, p. 314-318

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Bijveld, M. M., Florijn, R. J., Bergen, A. A. B., Van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C., Van Schoonveld, M. J., Kappers, A. M. & Van Genderen, M. M., 2013, In : Ophthalmology. 120, p. 2072-2081

Research output: Contribution to journal/periodicalArticleScientificpeer-review

In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucoma.

Janssen, S. F., Gorgels, T. G. M. F., Van der Spek, P. J., Jansonius, N. M. & Bergen, A. A. B., 2013, In : Journal of Clinical Bioinformatics. 3, p. 21

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.

Reis, A., Mateus, C., Viegas, T., Florijn, R. J., Bergen, A. A. B., Silva, E. & Castelo-Branco, M., 2013, In : Graefe's Archives of Clinical and Experimental Ophthalmology. 251, p. 221-234

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Prunier, F., Terrien, G., Le Corre, Y., Apana, A. L. Y., Biere, L., Kauffenstein, G., Furber, A., Bergen, A. A. B., Gorgels, T. G. M. F., Le Saux, O., Leftheriotis, G. & Martin, L., 2013, In : PLoS One. 8, p. 68700

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Janssen, S., Gorgels, T. G. M. F., Ramdas, W. S., Klaver, C. C., Van Duijn, C. M., Jansonius, N. M. & Bergen, A. A. B., 2013, In : Progress in Retinal and Eye Research. 37, p. 31-67

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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

Klooster, J., Van Genderen, M. M., Yu, M., Florijn, R. J., Riemslag, F. C., Bergen, A. A. B., Gregg, R. G., Peachey, N. S. & Kamermans, M., 2013, In : Investigative Ophthalmology & Visual Science. 54, p. 6973-6981

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault, I., Estrada-Cuzcano, A., Lopez, I., Bergen, A. A. B. & Rozet, J. M., 2013, In : PLoS One. 8, p. 51622

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2012

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

Gorgels, T. G. M. F., Teeling, P., Meeldijk, J. D., Nillesen, S. T., Van der Wal, A. C., Van Kuppevelt, T. H. & Bergen, A. A. B., 2012, In : Experimental Eye Research. 104C, p. 59-64

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Thiadens, A. A., Phan, T. M., Zekveld-Vroon, R. C., Leroy, B. P., Van den Born, L. I., Hoyng, C. B., Klaver, C. C., Bergen, A. A. B. & Lotery, A. J., 2012, In : Ophthalmology. 119, p. 819-826

Research output: Contribution to journal/periodicalArticleScientificpeer-review