المؤلفون: Óskarsson, Guðjón R., Oddsson, Asmundur, Magnusson, Magnus Karl, Kristjansson, Ragnar, Halldorsson, Gisli, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ívarsdóttir, Erna V., Arnadottir, Gudny, Jensson, Brynjar Örn, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdóttir, Anna Margrét, Lee, Amy L., Sæmundsdóttir, Jóna, Stefánsdóttir, Lilja, Sigurðsson, Jón K., Davíðsson, Ólafur B., Benonisdottir, Stefania, Jónasdóttir, Áslaug, Jónasdóttir, Aðalbjörg, Jonsson, Stefan, Guðmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Másson, Gísli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Önundarson, Páll Torfi, Gudbjartsson, Daniel, Norðdahl, Guðmundur L., Thorsteinsdottir, Unnur, sulem, patrick, Stefansson, Kari

المساهمون: Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Hemoglobin, ACO1, Genome-wide, Blóðrannsóknir, Erfðarannsóknir, Gen

Relation: Communications Biology;3(1); https://www.nature.com/articles/s42003-020-0921-5; Oskarsson, G.R., Oddsson, A., Magnusson, M.K. et al. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis. Communications Biology 3, 189 (2020). https://doi.org/10.1038/s42003-020-0921-5; https://hdl.handle.net/20.500.11815/2151; Communications Biology

الاتاحة: https://hdl.handle.net/20.500.11815/2151
https://doi.org/10.1038/s42003-020-0921-5

المؤلفون: Helgadottir, Anna, sulem, patrick, Thorgeirsson, Gudmundur, Grétarsdóttir, Sólveig, Thorleifsson, Gudmar, Jensson, Brynjar Örn, Arnadottir, Gudny, Olafsson, Isleifur, Eyjólfsson, Guðmundur I., Sigurdardottir, Olof, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, Holm, Hilma, Stefansson, Kari

المساهمون: Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), Háskóli Íslands (HÍ), University of Iceland (UI)

مصطلحات موضوعية: Coronary artery disease, HDL cholesterol, Mutation, SR-BI, Coronary arteriosclerosis, Kransæðasjúkdómar, Gen, Stökkbreytingar, Kólesteról, Erfðafræði

وصف الملف: 2172-2178

Relation: European Heart Journal;39(23); http://academic.oup.com/eurheartj/article-pdf/39/23/2172/25041378/ehy169.pdf; Anna Helgadottir, Patrick Sulem, Gudmundur Thorgeirsson, Solveig Gretarsdottir, Gudmar Thorleifsson, Brynjar Ö Jensson, Gudny A Arnadottir, Isleifur Olafsson, Gudmundur I Eyjolfsson, Olof Sigurdardottir, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, Hilma Holm, Kari Stefansson, Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease, European Heart Journal, Volume 39, Issue 23, 14 June 2018, Pages 2172–2178, https://doi.org/10.1093/eurheartj/ehy169; 1522-9645 (eISSN); https://hdl.handle.net/20.500.11815/1476; European Heart Journal

الاتاحة: https://hdl.handle.net/20.500.11815/1476
https://doi.org/10.1093/eurheartj/ehy169

المؤلفون: Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M., Jónsson, Stefán, Stefánsson, Ólafur A., Norðdahl, Guðmundur L., Zink, Florian, Arnadottir, Gudny, Gunnarsson, Bjarni, Halldorsson, Gisli, Helgadottir, Anna, Jensson, Brynjar Örn, Kristjánsson, Ragnar P., Sveinbjornsson, Gardar, Sverrisson, Davíð A., Másson, Gísli, Olafsson, Isleifur, Eyjólfsson, Guðmundur I., Sigurðardóttir, Ólöf, Holm, Hilma, Jonsdottir, Ingileif, Ólafsson, Sigurður, Steingrimsdottir, Thora, Rafnar, Thorunn, Björnsson, Einar Stefán, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, sulem, patrick, Stefansson, Kari

المساهمون: Faculty of Medicine (UI), Læknadeild (HÍ), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), Háskóli Íslands (HÍ), University of Iceland (UI)

مصطلحات موضوعية: Cholelithiasis, Gall bladder, Genome-wide association studies, Medical genetics, Gallsteinar, Gallblaðra, Erfðafræði, Rannsóknir, læknisfr

Relation: Nature Communications;9(1); Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M, . . . Stefansson, Kari. (2018). Genome-wide Association Meta-analysis Yields 20 Loci Associated with Gallstone Disease., Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. 2018, 9(1):5101 Nat Commun.; https://hdl.handle.net/20.500.11815/1384; Nature Communications

الاتاحة: https://hdl.handle.net/20.500.11815/1384
https://doi.org/10.1038/s41467-018-07460-y

المؤلفون: Arnadottir, Gudny, Norðdahl, Guðmundur L., Gudmundsdottir, Steinunn, Ágústsdóttir, Arna B., Sigurðsson, Snævar, Jensson, Brynjar Örn, Bjarnadóttir, Kristbjörg, Theodórs, Fannar, Benonisdottir, Stefania, Ívarsdóttir, Erna V., Oddsson, Asmundur, Kristjánsson, Ragnar P., Sulem, Gerald, Alexandersson, Kristján F., Júlíusdóttir, Þórhildur, Guðmundsson, Kjartan R., Sæmundsdóttir, Jóna, Jónasdóttir, Aðalbjörg, Jónasdóttir, Áslaug, Sigurðsson, Ásgeir, Manzanillo, Paolo, Guðjónsson, Sigurjón Axel, Thorisson, Gudmundur A., Magnússon, Ólafur Þ., Másson, Gísli, Örvar, Kjartan B., Holm, Hilma, Björnsson, Sigurður, Arngrimsson, Reynir, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Ásgeir, sulem, patrick, Stefansson, Kari

المساهمون: Faculty of Medicine (UI), Læknadeild (HÍ), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands (HÍ), University of Iceland (UI)

مصطلحات موضوعية: Antimicrobial responses, Disease genetics, Immunological deficiency syndromes, Rare variants, Ónæmisfræði, Erfðafræði

Relation: Nature Communications;9(1); Arnadottir, G.A., Norddahl, G.L., Gudmundsdottir, S. et al. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Nat Commun 9, 4447 (2018) doi:10.1038/s41467-018-06964-x; https://hdl.handle.net/20.500.11815/1386; Nature Communications

الاتاحة: https://hdl.handle.net/20.500.11815/1386
https://doi.org/10.1038/s41467-018-06964-x

المؤلفون: Iordache, Paul, Mates, Dana, Gunnarsson, Bjarni, Eggertsson, Hannes, sulem, patrick, Benonisdottir, Stefania, Csiki, Irma Eva, Rascu, Stefan, Radavoi, Daniel, Ursu, Radu, Staicu, Catalin, Calota, Violeta, Voinoiu, Angelica, Jinga, Mariana, Rosoga, Gabriel, Danau, Razvan, Sima, Sorin Cristian, Badescu, Daniel, Suciu, Nicoleta, Radoi, Viorica, Mates, Ioan Nicolae, Dobra, Mihai, Nicolae, Camelia, Kristjansdottir, Sigrun, Jónasson, Jón G., Manolescu, Andrei, Arnadottir, Gudny, Jensson, Brynjar Örn, Jonasdottir, Aslaug, Sigurdsson, Asgeir, le Roux, Louise, Johannsdottir, Hrefna, Rafnar, Thorunn, Halldórsson, Bjarni, Jinga, Viorel, Stefansson, Kari

المساهمون: Læknadeild (HÍ), Faculty of Medicine (UI), Tækni- og verkfræðideild (HR), School of Science and Engineering (RU), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskólinn í Reykjavík, Reykjavik University, Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Colorectal cancer, Lynch syndrome, Romania, Endaþarmskrabbamein, Lynch heilkenni, Rúmenía

وصف الملف: 6068-6076

Relation: info:eu-repo/grantAgreement/EC/FP7/202059; Journal of Cellular and Molecular Medicine;22(12); Iordache, PD, Mates, D, Gunnarsson, B, et al. Identification of Lynch syndrome risk variants in the Romanian population. J Cell Mol Med. 2018; 22: 6068– 6076. https://doi.org/10.1111/jcmm.13881; 1582-4934 (eISSN); https://hdl.handle.net/20.500.11815/1301; Journal of Cellular and Molecular Medicine

الاتاحة: https://hdl.handle.net/20.500.11815/1301
https://doi.org/10.1111/jcmm.13881

المؤلفون: Jensson, Brynjar Örn, Hansdottir, Sif, Arnadottir, Gudny, Sulem, Gerald, Kristjansson, Ragnar, Oddsson, Asmundur, Benonisdottir, Stefania, Jónsson, Hákon, Helgason, Agnar, Sæmundsdóttir, Jóna, Magnússon, Ólafur T., Másson, Gísli, Thorisson, Gudmundur, Jónasdóttir, Aðalbjörg, Jónasdóttir, Áslaug, Sigurðsson, Ásgeir, Jonsdottir, Ingileif, Pétursdóttir, Vigdís, Kristinsson, Jón R., Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, sulem, patrick, Guðmundsson, Gunnar, Stefansson, Kari

المساهمون: Félags- og mannvísindadeild (HÍ), Faculty of Social and Human Sciences (UI), Læknadeild (HÍ), Faculty of Medicine (UI), Félagsvísindasvið (HÍ), School of Social Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Genetics, Erfðagreining, Lungnasjúkdómar, Erfðafræði, Rannsóknir

Relation: BMC Medical Genetics;18(1); http://link.springer.com/content/pdf/10.1186/s12881-017-0490-8.pdf; Jensson, B. O., Hansdottir, S., Arnadottir, G. A., Sulem, G., Kristjansson, R. P., Oddsson, A., . . . Stefansson, K. (2017). COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. BMC Medical Genetics, 18(1), 129. doi:10.1186/s12881-017-0490-8; https://hdl.handle.net/20.500.11815/470; BMC Medical Genetics

الاتاحة: https://hdl.handle.net/20.500.11815/470
https://doi.org/10.1186/s12881-017-0490-8

المؤلفون: Kristjansson, Ragnar, Benonisdottir, Stefania, Oddsson, Asmundur, Galesloot, Tessel E., Þorleifsson, Guðmar, Aben, Katja K., Davíðsson, Ólafur B., Jónsson, Stefán, Arnadottir, Gudny, Jensson, Brynjar Örn, Walters, G. Bragi, Sigurðsson, Jón K., Sigurðsson, Snævar, Holm, Hilma, Arnar, Davíð O., Thorgeirsson, Gudmundur, Alexíusdóttir, Kristín, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., Jónsson, Þorvaldur, Gudbjartsson, Daniel, Rafnar, Thorunn, sulem, patrick, Stefansson, Kari

المساهمون: Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Appendicitis, Risk factors, Genome-wide association studies, Botnlangabólga, Áhættuþættir, Erfðarannsóknir

Relation: Scientific Reports;7(1); Ragnar P. Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E. Galesloot et al. Scientific Reports 7, Article number: 3119 (2017) doi:10.1038/s41598-017-03353-0; https://hdl.handle.net/20.500.11815/321; Scientific Reports

الاتاحة: https://hdl.handle.net/20.500.11815/321
https://doi.org/10.1038/s41598-017-03353-0