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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1192 - 1203
PURPOSE. To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS. In this multicenter case series, we included 22 patients... 
Phenotypic spectrum | RP1 | Retinitis pigmentosa | Cone-rod dystrophy | Macular dystrophy | PROTEIN | phenotypic spectrum | retinitis pigmentosa | RHODOPSIN | OPHTHALMOLOGY | cone-rod dystrophy | macular dystrophy | ISCEV STANDARD | RETINITIS | IDENTIFICATION
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 12/2018, Volume 6, Issue 1, pp. 147 - 147
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
Journal Article
by Springelkamp, Henriët and Höhn, René and Mishra, Aniket and Hysi, Pirro G and Khor, Chiea-Chuen and Loomis, Stephanie J and Bailey, Jessica N. Cooke and Gibson, Jane and Thorleifsson, Gudmar and Janssen, Sarah F and Luo, Xiaoyan and Ramdas, Wishal D and Vithana, Eranga and Nongpiur, Monisha E and Montgomery, Grant W and Xu, Liang and Mountain, Jenny E and Gharahkhani, Puya and Lu, Yi and Amin, Najaf and Karssen, Lennart C and Sim, Kar-Seng and van Leeuwen, Elisabeth M and Iglesias, Aiana I and Verhoeven, Virginie J. M and Hauser, Michael A and Loon, Seng-Chee and Despriet, Dominiek D. G and Nag, Abhishek and Venturini, Cristina and Sanfilippo, Paul G and Schillert, Arne and Kang, Jae H and Landers, John and Jonasson, Fridbert and Cree, Angela J and van Koolwijk, Leonieke M. E and Rivadeneira, Fernando and Souzeau, Emmanuelle and Jonsson, Vesteinn and Menon, Geeta and Weinreb, Robert N and de Jong, Paulus T. V. M and Oostra, Ben A and Uitterlinden, Ané G and Hofman, Albert and Ennis, Sarah and Thorsteinsdottir, Unnur and Burdon, Kathryn P and Spector, Timothy D and Mirshahi, Alireza and Saw, Seang-Mei and Vingerling, Johannes R and teo, Yik-Ying and Haines, Jonathan L and Wolfs, Roger C. W and Lemij, Hans G and Tai, E.-Shyong and Jansonius, Nomdo M and Jonas, Jost B and Cheng, Ching-Yu and Aung, Tin and Viswanathan, Ananth C and Klaver, Caroline C. W and Craig, Jamie E and Macgregor, Stuart and Mackey, David A and Lotery, Anew J and Stefansson, Kari and Bergen, Arthur A. B and Young, Terri L and Wiggs, Janey L and Pfeiffer, Norbert and Wong, Tien-Yin and Pasquale, Louis R and Hewitt, Alex W and van Duijn, Cornelia M and Hammond, Christopher J and Mitchell, Paul and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Kang, Jae Hee and Kraft, Peter and Lee, Richard K and ... and Blue Mt Eye Study GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 4883 - 4883
Journal Article
by de Vette, Ivar and Lombardo, Angelo and Berkhout, Ben and Vervoordeldonk, Margriet and Dekkers, Johanna F and Kruisselbrink, Evelien and Vonk, Annelotte M and de Jonge, Hugo R and de Winter, Karin M and de Groot, – and Janssens, Hettie M and Bronsveld, Inez and Nieuwenhuis, Edward E.S and Houwen, Roderick H.J and Vleggaar, Frank P and Escher, Hankje C and Clevers, Hans and van der Ent, Cornelis K and Buckland, Karen and Rivat, Christine and Himoudi, Nourredine and Gilmour, Kimberly and Booth, Claire and Cornetta, Kenneth and Kohn, Don B and Carbonaro, Denise and Paruzynski, Anna and Schmidt, Manfred and Thrasher, Adrian J and Schaffer, David and Hwang, Tae-Ho and Zinn, E and Khaychuk, V and Sarkar, D and Carvalho, L and Pacouret, S and Morris, H and Plovie, E and van Gent, Michiel and Gram, Anna and Boer, Ingrid and Horst, Danielle and Zaldumbide, Arnaud and Hoeben, Rob and Wiertz, Emmanuel and Maring, J and Smits, AM and Ouyang, Hong and Lin, Ying and Wang, Yujuan and Cai, Humim and Li, Gen and Patel, Sherrina and Zhu, Jie and Lin, Danni and Wen, Cindy and Zhu, Jin and Tsaalbi-Shtylik, Anastasia and Martín-Pardillos, Ana and Ferras, Cristina and Verspuy, Johan and Speksnijder, Ewoud and Jansen, Jacob and Peng, Kah Whye and Federspiel, Mark and Naik, Shruthi and Ruiz, Autumn and Lacy, Martha and Dispenzieri, Angela and O'Donovan, Liz and Arzumanov, Andrey A and Rahim, A.A and Burke, D.G and Buckley, S.M and Cullen, E and Mukherji, S and Mills, K and Sirka, E and Herbert, B and Karlsson, S and Hughes, D.A and Mehta, A.B and Howe, S.J and Heales, S and Cooper, J.D and Cheng, S.H and van Til, Niek P and Liang, Q and Stok, M and Wagemaker, G and Reiss, Ulrike M and Tuddenham, Edward G.D and Nienhuis, Arthur W and Davidoff, Andrew M and Meneghini, V and Lattanzi, A and Tiradani, L and Bravo, G and Morena, F and Martino, S and ...
Human Gene Therapy, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A1 - A121
Journal Article
Fluids and barriers of the CNS, ISSN 2045-8118, 2014, Volume 11, Issue 1, pp. 2 - 2
The neuroepithelia of the choroid plexus (CP) in the brain and the ciliary body (CB) of the eye have common embryological origins and share similar... 
Choroid plexus | Genetic research | Genetic aspects | Research | Gene expression | Comparative analysis | Nervous system diseases
Journal Article
Experimental Eye Research, ISSN 0014-4835, 2014, Volume 121, p. 41
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 12, pp. e83345 - e83345
Journal Article