Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Kristin Thorisdottir"'
Autor:
Kavita Y. Sarin, Yuan Lin, Roxana Daneshjou, Andrey Ziyatdinov, Gudmar Thorleifsson, Adam Rubin, Luba M. Pardo, Wenting Wu, Paul A. Khavari, Andre Uitterlinden, Tamar Nijsten, Amanda E. Toland, Jon H. Olafsson, Bardur Sigurgeirsson, Kristin Thorisdottir, Eric Jorgensen, Alice S. Whittemore, Peter Kraft, Simon N. Stacey, Kari Stefansson, Maryam M. Asgari, Jiali Han
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
The authors perform a meta-analysis of cutaneous squamous cell carcinoma, identifying causal variants within skin-specific regulatory elements.
Externí odkaz:
https://doaj.org/article/3a0b0aba949a42b1b0aba9dc9eb8de5c
Autor:
Kari Stefansson, Daniel F. Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Jon H. Olafsson, Karl Olafsson, Tomas T. Agustsson, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Hannes P. Eggertsson, Lilja Stefansdottir, Pall I. Olason, Evgenia Mikaelsdottir, Julius Gudmundsson, Valgerdur Steinthorsdottir, Pall Melsted, Solvi Rognvaldsson, Sigrun H. Lund, Florian Zink, Sigurjon A. Gudjonsson, Run Fridriksdottir, Asmundur Oddsson, Arnaldur Gylfason, Hakon Jonsson, Snaedis Kristmundsdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Jon G. Jonasson, Rafn Benediktsson, Kavita Y. Sarin, Laufey Tryggvadottir, Arni Kjalar Kristjansson, Kristin Thorisdottir, Bardur Sigurgeirsson, Kristjan Norland, Gudmar Thorleifsson, Gardar Sveinbjornsson, Simon N. Stacey, Thorhildur Olafsdottir
Supplementary Methods, Supplementary Tables 1-18 and Supplementary Figures 1-5.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408cfbab7da2b2bf26b7c6b156fbfbd7
https://doi.org/10.1158/0008-5472.22428144
https://doi.org/10.1158/0008-5472.22428144
Data from Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
Autor:
Kari Stefansson, Daniel F. Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Jon H. Olafsson, Karl Olafsson, Tomas T. Agustsson, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Hannes P. Eggertsson, Lilja Stefansdottir, Pall I. Olason, Evgenia Mikaelsdottir, Julius Gudmundsson, Valgerdur Steinthorsdottir, Pall Melsted, Solvi Rognvaldsson, Sigrun H. Lund, Florian Zink, Sigurjon A. Gudjonsson, Run Fridriksdottir, Asmundur Oddsson, Arnaldur Gylfason, Hakon Jonsson, Snaedis Kristmundsdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Jon G. Jonasson, Rafn Benediktsson, Kavita Y. Sarin, Laufey Tryggvadottir, Arni Kjalar Kristjansson, Kristin Thorisdottir, Bardur Sigurgeirsson, Kristjan Norland, Gudmar Thorleifsson, Gardar Sveinbjornsson, Simon N. Stacey, Thorhildur Olafsdottir
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a64ddcbf821174dc24973d3491115354
https://doi.org/10.1158/0008-5472.c.6512925.v1
https://doi.org/10.1158/0008-5472.c.6512925.v1
Autor:
Unnur Thorsteinsdottir, Asgeir Sigurdsson, Bjarni V. Halldorsson, Asmundur Oddsson, Kari Stefansson, Tomas Thor Agustsson, Hannes P. Eggertsson, Rafn Benediktsson, Gudmar Thorleifsson, Páll Melsted, Thorunn Rafnar, Arni Kristjansson, Patrick Sulem, Lilja Stefansdottir, Karl Olafsson, Kristjan Norland, Julius Gudmundsson, Jón Ólafsson, Laufey Tryggvadottir, Kavita Y. Sarin, Solvi Rognvaldsson, Gardar Sveinbjornsson, Hakon Jonsson, Arnaldur Gylfason, Sigurjon A. Gudjonsson, Sigrun H. Lund, Kristin Thorisdottir, Daniel F. Gudbjartsson, Florian Zink, Aslaug Jonasdottir, Jon G. Jonasson, Evgenia Mikaelsdottir, Bardur Sigurgeirsson, Thorhildur Ólafsdóttir, Valgerdur Steinthorsdottir, Pall I. Olason, Snaedis Kristmundsdottir, Run Fridriksdottir, Simon N. Stacey
Publikováno v:
Cancer Research. 81:1954-1964
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c354edb1f1d457b12e0a864029715b2
https://doi.org/10.1158/0008-5472.can-20-3065
https://doi.org/10.1158/0008-5472.can-20-3065
Autor:
Thorhildur, Olafsdottir, Simon N, Stacey, Gardar, Sveinbjornsson, Gudmar, Thorleifsson, Kristjan, Norland, Bardur, Sigurgeirsson, Kristin, Thorisdottir, Arni Kjalar, Kristjansson, Laufey, Tryggvadottir, Kavita Y, Sarin, Rafn, Benediktsson, Jon G, Jonasson, Asgeir, Sigurdsson, Aslaug, Jonasdottir, Snaedis, Kristmundsdottir, Hakon, Jonsson, Arnaldur, Gylfason, Asmundur, Oddsson, Run, Fridriksdottir, Sigurjon A, Gudjonsson, Florian, Zink, Sigrun H, Lund, Solvi, Rognvaldsson, Pall, Melsted, Valgerdur, Steinthorsdottir, Julius, Gudmundsson, Evgenia, Mikaelsdottir, Pall I, Olason, Lilja, Stefansdottir, Hannes P, Eggertsson, Bjarni V, Halldorsson, Unnur, Thorsteinsdottir, Tomas T, Agustsson, Karl, Olafsson, Jon H, Olafsson, Patrick, Sulem, Thorunn, Rafnar, Daniel F, Gudbjartsson, Kari, Stefansson
Publikováno v:
Cancer research. 81(8)
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60b6066658d4a51fb140e1c60e33f0e3
https://pubmed.ncbi.nlm.nih.gov/33602785
https://pubmed.ncbi.nlm.nih.gov/33602785
Autor:
Gudmar Thorleifsson, Peter Kraft, Jón Ólafsson, André G. Uitterlinden, Paul A. Khavari, Eric Jorgensen, Andrey Ziyatdinov, Kavita Y. Sarin, Luba M. Pardo, Kristin Thorisdottir, Amanda E. Toland, Yuan Lin, Adam J. Rubin, Wenting Wu, Alice S. Whittemore, Simon N. Stacey, Roxana Daneshjou, Kari Stefansson, Maryam M. Asgari, Bardur Sigurgeirsson, Jiali Han, Tamar Nijsten
Publikováno v:
Nature Communications, 11(1):820. Nature Publishing Group
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Publisher's version (útgefin grein)
Cutaneous squamous cell carcinoma (SCC) is one of the most common cancers in the United States. Previous genome-wide association studies (GWAS) have identified 14 single nucleotide polymorphisms (SNPs) associ
Cutaneous squamous cell carcinoma (SCC) is one of the most common cancers in the United States. Previous genome-wide association studies (GWAS) have identified 14 single nucleotide polymorphisms (SNPs) associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb1f8f9262b9d4314efc066b04f08778
https://pure.eur.nl/en/publications/008a08cd-0784-453c-b59f-5d52eaad5c33
https://pure.eur.nl/en/publications/008a08cd-0784-453c-b59f-5d52eaad5c33
Autor:
Gisli Masson, Hrefna Johannsdottir, Julius Gudmundsson, Jona Saemundsdottir, Helgi J Isaksson, Fridbjorn Sigurdsson, Hronn Hardardottir, Gudridur H Olafsdottir, Luba M. Pardo, Daniel F. Gudbjartsson, Hannes Helgason, Jon G. Jonasson, Simon N. Stacey, L.A. Kiemeney, Laufey Tryggvadottir, Martin Lacko, Thorkell Gudjonsson, Thorunn Rafnar, Asgeir Sigurdsson, Steinn Jonsson, Jon K. Sigurdsson, Tessel E. Galesloot, Wilbert H.M. Peters, Gunnar B Ragnarsson, Tamar Nijsten, Gudbjorg R Sigurjonsdottir, Kristin Thorisdottir, Kristin Alexiusdottir, Dawn C. Allain, Unnur Thorsteinsdottir, Sita H. Vermeulen, Kari Stefansson, Jón Ólafsson, Patrick Sulem, André G. Uitterlinden, Amanda E. Toland, Gisli H. Halldorsson, Oskar T. Johannsson, Stefan T Sigurdsson, Gudmar Thorleifsson, Bardur Sigurgeirsson, Tomas Gudbjartsson
Publikováno v:
Journal of the National Cancer Institute, 110, 9, pp. 967-974
Journal of the National Cancer Institute, 110, 967-974
Journal of the National Cancer Institute, 110(9):djy002, 967-974. Oxford University Press
Journal of the National Cancer Institute, 110, 967-974
Journal of the National Cancer Institute, 110(9):djy002, 967-974. Oxford University Press
Contains fulltext : 195644.pdf (Publisher’s version ) (Closed access) Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), conf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76ce02deb10185a779df6b034c0b281b
https://hdl.handle.net/2066/195644
https://hdl.handle.net/2066/195644
Autor:
Donghui Kan, Jack A. Schalken, Hafsteinn Saemundsson, Sebastian Navarrete, Onno van Hooij, Bjarni A. Agnarsson, D. Timothy Bishop, Gunnar Steineck, Johan Hansson, Rafn Ragnarsson, Thorunn Rafnar, Halla Skuladottir, Alejandro Tres, Eirikur Jonsson, Katja K H Aben, Eliane Kellen, Augustine Kong, Rafael Botella-Estrada, René A Termeer, Javier Banzo, Sigurborg Matthiasdottir, Henricus F. M. van der Heijden, Margret Jakobsdottir, Anna Salvarsdottir, Jose I. Mayordomo, Stefano Porru, Bardur Sigurgeirsson, Hafdis T. Helgadottir, Annika Lindblom, Giuseppe Matullo, Asgeir Sigurdsson, Gudmundur V. Einarsson, Frank Geller, Daniel F. Gudbjartsson, William J. Catalona, Steinunn Thorlacius, Rosa B. Barkardottir, Anne E. Kiltie, Rajesh Kumar, Unnur Thorsteinsdottir, Tomas Gudbjartsson, Maurice P. Zeegers, Berta Saez, Lambertus A. Kiemeney, Margret Asgeirsdottir, Helgi J Isaksson, Kari T. Kristinsson, Peter Rudnai, Jón Ólafsson, Steinn Jonsson, Kristin Thorisdottir, Gisli Masson, Petra J. de Verdier, Femmie de Vegt, Karl Olafsson, Paolo Vineis, Kvetoslava Koppova, Veronica Höiom, Hans J Smit, Jeffrey R. Gulcher, Silvia Polidoro, Thorvaldur Jonsson, Eduardo Nagore, Thorarinn Blondal, Thorgeir E. Thorgeirsson, Kristrun R. Benediktsdottir, Hjordis Bjarnason, Michael L. Frigge, Maria Vidal, Steinunn G Sveinsdottir, Raquel Andrés, Egbert Oosterwijk, Frank Buntinx, Gudmar Thorleifsson, Patrick Sulem, Pablo Juberías, Simon N. Stacey, Eugene Gurzau, Marcello Campagna, Kari Stefansson, Kristleifur Kristjansson, Ana Ferrer, Dolores Isla, Julius Gudmundsson, Kari Hemminki
Publikováno v:
Nature Genetics, 41, 221-7
Nature Genetics, 41, 2, pp. 221-7
Nature Genetics, 41(2), 221-7. Nature Publishing Group
Nature Genetics, 41, 2, pp. 221-7
Nature Genetics, 41(2), 221-7. Nature Publishing Group
Contains fulltext : 81560.pdf (Publisher’s version ) (Closed access) The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886121aff79f0dc8716a2f6b2fc229a6
https://doi.org/10.1038/ng.296
https://doi.org/10.1038/ng.296
Autor:
Jeffrey R. Gulcher, Kristleifur Kristjansson, Kristin Thorisdottir, Agnar Helgason, Margaret A. Tucker, Patrick Sulem, Thorunn Rafnar, Jens Kjartansson, Bardur Sigurgeirsson, Jelena Kostic, Gudbjorn F. Jonsson, Gisli Masson, Augustine Kong, Jón Ólafsson, Simon N. Stacey, Unnur Thorsteinsdottir, Kari Stefansson, Rafn Ragnarsson, Alisa M. Goldstein, Kristrun R. Benediktsdottir
Publikováno v:
Journal of Medical Genetics. 45:284-289
Background: Germline CDKN2A mutations have been observed in 20-40% of high-risk melanoma-prone families, however little is known about their prevalence in population-based series of melanoma cases and controls. Methods: We resequenced the CDKN2A gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d80a9ca0cdac76dc9ce844e6d6a6cd
https://doi.org/10.1136/jmg.2007.055376
https://doi.org/10.1136/jmg.2007.055376
Autor:
Thorunn Rafnar, Johan Hansson, Daniel F. Gudbjartsson, Raquel Andrés, Pablo Juberías, Margret Jakobsdottir, Solveig Gretarsdottir, Jeffrey R. Gulcher, Konstantinos Kostulas, Bardur Sigurgeirsson, Berta Saez, Kristin Thorisdottir, Rajesh Kumar, Jón Ólafsson, Margaret A. Tucker, Patrick Sulem, Veronica Magnusson, Kari Stefansson, Dominique Scherer, Simon N. Stacey, Eugene Gurzau, Stacy Steinberg, Augustine Kong, Eduardo Nagore, Lambertus A. Kiemeney, Peter Rudnai, Kristrun R. Benediktsdottir, Rafael Botella-Estrada, Annika Lindblom, Kvetoslava Koppova, Unnur Thorsteinsdottir, Matilde Grasa, Virtudes Soriano, Agnar Helgason, Steinunn G Sveinsdottir, Jose I. Mayordomo, Rafn Ragnarsson, Alisa M. Goldstein
Publikováno v:
Nature Genetics, 40, 7, pp. 886-91
Nature Genetics, 40, 886-91
Nature Genetics, 40, 886-91
Contains fulltext : 69041.pdf (Publisher’s version ) (Closed access) Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f699dd3e6850560269f33845949582d
https://hdl.handle.net/2066/69041
https://hdl.handle.net/2066/69041