The ERCC6 gene and age-related macular degeneration.

Autor: Dominique C Baas, Dominiek D Despriet, Theo G M F Gorgels, Julie Bergeron-Sawitzke, André G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Joanna E Merriam, R Theodore Smith, Gaetano R Barile, Jacoline B ten Brink, Johannes R Vingerling, Caroline C W Klaver, Rando Allikmets, Michael Dean, Arthur A B Bergen

Publikováno v: PLoS ONE, Vol 5, Iss 11, p e13786 (2010)

Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the developed countries and is caused by both environmental and genetic factors. A recent study (Tuo et al., PNAS) reported an association between AMD and a si

Externí odkaz: https://doaj.org/article/74eae6f0101843779044bed55767c488

Retinal vasproliferative tumor in a case of X-linked retinoschisis detachment

Autor: Audina M. Berrocal, Nimesh A. Patel, Kimberly D. Tran, Stanley Chang, Diana M. Laura, Gaetano R. Barile

Publikováno v: American Journal of Ophthalmology Case Reports
American Journal of Ophthalmology Case Reports, Vol 9, Iss C, Pp 48-50 (2018)

Purpose To describe the first published case of X-linked retinoschisis (XLRS) detachment with retinal vasoproliferative tumor (RVPT) and provide a literature review of the subject. Observations The authors describe a case of a 17 year old male with X

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f7b7289ec1f6bbf123ebd6c7534c40
https://doi.org/10.1016/j.ajoc.2018.01.002

Unilateral retinopathy secondary to occult primary intraocular lymphoma

Autor: Shafinaz Hussein, Aakriti Garg, Stephen H. Tsang, Gaetano R. Barile, Donald C. Hood, Brian P. Marr

Publikováno v: Documenta Ophthalmologica. 127:261-269

The purpose of the study is to report the clinical case of a 53-year-old woman whose presenting manifestation of primary intraocular lymphoma (PIOL) was unilateral retinal degeneration.A case report was created with review of clinical, imaging, elect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a538451b01d7310431066c050fd2267b
https://doi.org/10.1007/s10633-013-9409-7

Seven new loci associated with age-related macular degeneration

Autor: Paul Mitchell, Lindsay A. Farrer, Ming Zhang, Mohammad Othman, Michiaki Kubo, André G. Uitterlinden, Anton Orlin, Kyu Hyung Park, Simon P. Harding, Yusuke Nakamura, Eric H Souied, William K. Scott, Gregory S. Hageman, Anita Agarwal, G. Rudolph, Henry Ferreyra, Yutaka Kiyohara, Humma Shahid, Yukinori Okada, Gregory Hannum, Hendrik P. N. Scholl, Christian Gieger, Clara Lee, H.-Erich Wichmann, Andrew R. Webster, Margaret A. Pericak-Vance, Brian L. Yaspan, Bernhard H. F. Weber, Gyungah Jun, Gabriëlle H.S. Buitendijk, Ching-Yu Cheng, Igor Kozak, Ana Maria Armbrecht, Gaetano R. Barile, Valentina Cipriani, Stephanie A. Hagstrom, Paul N. Baird, Margaret M. DeAngelis, Ronald Klein, Itay Chowers, Matthew Brooks, Mark J. Daly, Kimberly A Chin, Wei Chen, Thierry Léveillard, Cornelia M. van Duijn, Barbara E.K. Klein, Tien Yin Wong, Olivier Poch, Yi Yu, Peter Lichtner, Michael L. Klein, Lars G. Fritsche, Daniel E. Weeks, Radu Cojocaru, Gayle J.T. Pauer, Jaclyn L. Kovach, John R. Heckenlively, Jonathan L. Haines, Andrew J. Lotery, Nicholas Katsanis, Caroline C W Klaver, Stephan Ripke, Unnur Thorsteinsdottir, M. Carolina Ortube, Rando Allikmets, Nirubol Tosakulwong, Barbara Truitt, Robert P. Igo, Johanna M. Seddon, Kristine E. Lee, Emily Y. Chew, Kang Zhang, Debra A. Schaumberg, David Clayton, Frank G. Holz, Robyn Reynolds, Matthew Schu, Neal S. Peachey, Neel Gupta, Tatsuro Ishibashi, William Cade, Melinda Cain, Gwen M. Sturgill-Short, Jane C. Khan, Asbjorg Geirsdottir, Atsushi Takahashi, Thomas Meitinger, Belinda K. Cornes, Xueling Sim, Raymond Ripp, Evangelos Evangelou, Saddek Mohand-Said, Albert O. Edwards, Theru A. Sivakumaran, John P. A. Ioannidis, Kari Branham, Peronne Joseph, Jie Jin Wang, Chelsea E. Myers, Thomas W. Winkler, Johannes R. Vingerling, Robyn H. Guymer, Anthony T. Moore, Christos Haritoglou, Peter A. Campochiaro, Ronnie George, Chi-Chao Chan, Sudha K. Iyengar, Lucia Sobrin, Eranga N. Vithana, Haraldur Sigurdsson, James S. Friedman, Guy Hughes, Baljean Dhillon, Lingam Vijaya, Alan F. Wright, José-Alain Sahel, Rinki Ratna Priya, Tin Aung, R. Theodore Smith, Isabelle Audo, Satoshi Arakawa, Alexander J. Brucker, Gonçalo R. Abecasis, Evangelia E. Tsironi, Anand Swaroop, Mark Lathrop, Mustapha Benchaboune, Diana Zelenika, Joanna E. Merriam, Iris M. Heid, Denise J. Morgan, Michael B. Gorin, Donald J. Zack, Ling Zhao, Hreinn Stefansson, Andrea J. Richardson, Yvette P. Conley, Kari Stefansson, Giuliana Silvestri, Yoichiro Kamatani, Ivana K. Kim, Gudmar Thorleifsson, Stephen G. Schwartz, Alan C. Bird, Claudia N. Keilhauer, Euijung Ryu, Margaux A. Morrison, Chris Pappas, Dwight Stambolian, John R.W. Yates, Paul N. Bishop, Jesen Fagerness, Adam C. Naj, Peter J. Francis

Publikováno v: Nature genetics
Fritsche, L G, Chen, W, Schu, M, Yaspan, B L, Yu, Y, Thorleifsson, G, Zack, D J, Arakawa, S, Cipriani, V, Ripke, S, Igo, R P, Buitendijk, G H S, Sim, X, Weeks, D E, Guymer, R H, Merriam, J E, Francis, P J, Hannum, G, Agarwal, A, Armbrecht, A M, Audo, I, Aung, T, Barile, G R, Benchaboune, M, Bird, A C, Bishop, P N, Branham, K E, Brooks, M, Brucker, A J, Cade, W H, Cain, M S, Campochiaro, P A, Chan, C-C, Cheng, C-Y, Chew, E Y, Chin, K A, Chowers, I, Clayton, D G, Cojocaru, R, Conley, Y P, Cornes, B K, Daly, M J, Dhillon, B, Edwards, A O, Evangelou, E, Fagerness, J, Ferreyra, H A, Friedman, J S & Geirsdottir, A & Wright, A F 2013, ' Seven new loci associated with age-related macular degeneration ', Nature Genetics, vol. 45, no. 4, pp. 433-439 . https://doi.org/10.1038/ng.2578
Nature Genetics, 45(4), 433-439. Nature Publishing Group

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 adv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4451372e2f5850d354684c0f44ffcc5
https://doi.org/10.1038/ng.2578

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Autor: Caroline C W Klaver, Donald J. Zack, Paul N. Baird, Rando Allikmets, Tushar Bhangale, Andrea J. Richardson, Gabriëlle H.S. Buitendijk, Joanna E. Merriam, R. Theodore Smith, André G. Uitterlinden, Cornelia M. van Duijn, Kimberly A Chin, Nicholas Katsanis, Eric H Souied, Luba D Robman, Nicolas Leveziel, Robyn Reynolds, Gudmar Thorleifsson, Johannes R. Vingerling, Perciliz L. Tan, Aaron Y. Lee, Lucia Sobrin, Phil Lee, Soumya Raychaudhuri, Yi Yu, Betsy Campochiaro, Kari Stefansson, Mark J. Daly, Ward Ortmann, Usha Chakravarthy, Peter A. Campochiaro, Jesen Fagerness, Gaetano R. Barile, Johanna M. Seddon, Milam A. Brantley, Omar Gustafsson, Unnur Thorsteinsdottir, Evangelos Evangelou, Ruth E Hogg, Timothy W. Behrens, Stephan Ripke, Robyn H. Guymer, Haraldur Sigurdsson, Robert R. Graham, John P. A. Ioannidis

Publikováno v: Human Molecular Genetics, 20(18), 3699-3709. Oxford University Press
Human Molecular Genetics

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bffed5c8e0db5b455bd8ea1243b0baca
https://hdl.handle.net/1765/34022