Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Asbjorg Geirsdottir"'
Autor:
Anders Kvanta, Nalini Rangaswamy, Karen Holopigian, Christine Watters, Nicki Jennings, Melissa S. H. Liew, Chad Bigelow, Cynthia Grosskreutz, Marie Burstedt, Abinaya Venkataraman, Sofie Westman, Asbjörg Geirsdottir, Kalliopi Stasi, Helder André
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Gene therapy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders characterized by severe loss of vision. Here, we report up to 3-year pre-specified interim safety and efficacy results of an open-la
Externí odkaz:
https://doaj.org/article/3edf795df36e4c739287664b808fdee1
Publikováno v:
Acta Ophthalmologica. 92:27-33
Purpose To determine whether retinal vessel oxygen saturation in patients with exudative age-related macular degeneration (AMD) is different from that of a healthy population. Methods Oxygen saturation was measured in retinal arterioles and venules i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6332a6604d04b7f1361af8d0f45846e
https://doi.org/10.1111/aos.12294
https://doi.org/10.1111/aos.12294
Autor:
Hannes Helgason, Asbjorg Geirsdottir, Unnur Thorsteinsdottir, Haraldur Sigurdsson, Yaojun Song, Yaou Duan, G. Bragi Walters, Johannes P. H. van de Ven, Hongrong Luo, Tina Ristau, Frederieke E. Schoenmaker-Koller, Kang Zhang, Carel B. Hoyng, Ling Zhao, Paul S. Bernstein, Lambertus A. Kiemeney, Shirrina Patel, Camiel J. F. Boon, Sascha Fauser, Hreinn Stefansson, Olafur T. Magnusson, Gudleif Helgadottir, Gisli Masson, Kari Stefansson, Patrick Sulem, Ingileif Jonsdottir, Michelle Pei, Henry Ferreyra, Einar Stefánsson, Fridbert Jonasson, Thorunn Rafnar, Sandra Liakopoulos, Daniel F. Gudbjartsson, Anneke I. den Hollander, Gudmar Thorleifsson, Maheswara R Duvvari, Augustine Kong
Publikováno v:
Nature Genetics, 45, 1371-4
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153
Contains fulltext : 125275.pdf (Publisher’s version ) (Closed access) Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a384c0fcdb1e74be68da544ed189ccc
https://doi.org/10.1038/ng.2740
https://doi.org/10.1038/ng.2740
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
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
https://doi.org/10.1038/ng.2578
Publikováno v:
Acta Ophthalmologica. 92:121-125
Purpose: To determine the incidence rate as well as causative diagnoses and surgical indications of enucleation in Iceland during the years 1992–2004. Methods: A retrospective population-based incidence study involving the entire population of Icel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d117c5367002465d7651b6b34f0de5
https://doi.org/10.1111/aos.12004
https://doi.org/10.1111/aos.12004
Autor:
Maria Soffia Gottfredsdottir, Olof Birna Olafsdottir, Thierry Zeyen, Ingeborg Stalmans, Jona Valgerdur Kristjansdottir, Asbjorg Geirsdottir, Evelien Vandewalle, Peter Stalmans, Luís Abegão Pinto, Einar Stefánsson, Eline De Clerck, Joachim Van Calster
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Background: To test whether retinal oxygen metabolism is different in glaucoma patients compared with healthy subjects. Methods: This was a two-centre study where retinal vessel oxygen saturation was measured in glaucoma patients and healthy individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::238a391deb01a6d5e2e01b58f0f23189
https://hdl.handle.net/10400.17/3806
https://hdl.handle.net/10400.17/3806
Autor:
Jv Kristjansdottir, O.B. Olafsdottir, Sk Hardarson, Asbjorg Geirsdottir, T Scheving, Einar Stefánsson
Publikováno v:
Acta Ophthalmologica. 91
Diagnostic imaging of retinal disease has been limited to structural analysis, angiography and testing of visual function. Until the advent of retinal oximetry, no metabolic retinal imaging has been available in the clinic. Metabolic imaging has obvi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c3aaac339d2246d8b3f596ed43776d7
https://doi.org/10.1111/j.1755-3768.2013.3753.x
https://doi.org/10.1111/j.1755-3768.2013.3753.x
Publikováno v:
Acta Ophthalmologica. 90
Purpose To determine whether oxygen saturation in retinal vessels of patients with age-related macular degeneration (AMD) is different from that of a healthy population. Methods The non-invasive retinal oximeter is based on a fundus camera. It simult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa766e7989225aed842f212ccc853832
https://doi.org/10.1111/j.1755-3768.2012.2814.x
https://doi.org/10.1111/j.1755-3768.2012.2814.x
Autor:
Olafur Petur Palsson, Sveinn Hakon Hardarson, Einar Stefánsson, Jona Valgerdur Kristjansdottir, Olof Birna Olafsdottir, Asbjorg Geirsdottir
Publikováno v:
Investigative ophthalmologyvisual science. 53(9)
We measured oxygen saturation in retinal vessels of healthy eyes to determine the effects of age, sex, and cardiovascular parameters, as well as the reliability of the measurements and topographic differences.The Oxymap T1 retinal oximeter is based o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba88c990274aa796d94be7ea5a707530
https://pubmed.ncbi.nlm.nih.gov/22786895
https://pubmed.ncbi.nlm.nih.gov/22786895
Autor:
Sveinn Hakon Hardarson, Olof Birna Olafsdottir, Olafur Petur Palsson, Jona Valgerdur Kristjansdottir, Einar Stefánsson, Asbjorg Geirsdottir
Publikováno v:
Investigative ophthalmologyvisual science. 53(4)
Purpose Retinal vessel oximetry is a new technology and needs detailed methodological scrutiny. We determine (1) the repeatability of retinal vessel oxygen saturation measurements, (2) whether measured saturation is different between retinal quadrant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f92386a81cf17f5075e6d1870fba43b
https://pubmed.ncbi.nlm.nih.gov/22395877
https://pubmed.ncbi.nlm.nih.gov/22395877