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Journal Article
PLoS One, ISSN 1932-6203, 2017, Volume 12, Issue 8
BACKGROUND: The retinal pigment epithelium (RPE) is a neural monolayer lining the back of the eye. Degeneration of the RPE leads to severe vision loss in, so... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, pp. 884 - 895
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN:... 
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 06/2019, Volume 39, Issue 6, pp. 1186 - 1199
To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. A... 
Journal Article
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2018, Volume 14, Issue 7, pp. P397 - P398
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2018, Volume 14, Issue 7, pp. P770 - P771
Journal Article
BMC Genomics, ISSN 1471-2164, 11/2015, Volume 16
Journal Article
Retina, ISSN 0275-004X, 2017
PURPOSE: To evaluate the long-term clinical course and visual outcome of patients with choroideremia. METHODS: Clinical examination, a social questionnaire,... 
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 2017
To evaluate the long-term clinical course and visual outcome of patients with choroideremia. Clinical examination, a social questionnaire, and medical records... 
Journal Article
BMC Genomics, ISSN 1471-2164, 2015, Volume 16, Issue 1
BACKGROUND: Alzheimer's disease (AD) is the most common form of dementia. AD has a multifactorial disease etiology and is currently untreatable. Multiple genes... 
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 10
BACKGROUND: The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular degeneration (AMD). AMD is the... 
Journal Article
Plos one, ISSN 1932-6203, 12/2013, Volume 8, Issue 12
Background: The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the... 
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9
Purpose: The ciliary body (CB) of the human eye consists of the non-pigmented (NPE) and pigmented (PE) neuro-epithelia. We investigated the gene expression of... 
Journal Article
Human molecular genetics, ISSN 0964-6906, 2011, Volume 20, Issue 12, pp. 2464 - 2471
Journal Article
by van Koolwijk, Leonieke M. E and Ramdas, Wishal D and Ikram, M. Kamran and Jansonius, Nomdo M and Pasutto, Francesca and Hysi, Pirro G and Macgregor, Stuart and Janssen, Sarah F and Hewitt, Alex W and Viswanathan, Ananth C and ten Brink, Jacoline B and Hosseini, S. Mohsen and Amin, Najaf and Despriet, Dominiek D. G and Willemse-Assink, Jacqueline J. M and Kramer, Rogier and Rivadeneira, Fernando and Struchalin, Maksim and Aulchenko, Yurii S and Weisschuh, Nicole and Zenkel, Matthias and Mardin, Christian Y and Gramer, Eugen and Welge-Lüssen, Ulrich and Montgomery, Grant W and Carbonaro, Francis and Young, Terri L and Bellenguez, Céline and McGuffin, Peter and Foster, Paul J and Topouzis, Fotis and Mitchell, Paul and Wang, Jie Jin and Wong, Tien Y and Czudowska, Monika A and Hofman, Albert and Uitterlinden, Ane G and Wolfs, Roger C. W and de Jong, Paulus T. V. M and Oostra, Ben A and Paterson, Anew D and Mackey, David A and Bergen, Arthur A. B and Reis, Ané and Hammond, Christopher J and Vingerling, Johannes R and Lemij, Hans G and Klaver, Caroline C. W and van Duijn, Cornelia M and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Auey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N.-A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and nov, Serge and Gillman, Matthew and Gray, Emma and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Weston, Paul and Widaa, Sara and Whittaker, Pamela and McCarthy, Mark I and DCCT-EDIC Res Grp and Wellcome Trust Case Control and Wellcome Trust Case Control Consortium 2 and DCCT/EDIC Research Group and The DCCT/EDIC Research Group
PLoS genetics, ISSN 1553-7390, 2012, Volume 8, Issue 5, pp. e1002611 - e1002611
Journal Article
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