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Fletta eftir höfundi "Örvar, Kjartan B."

Fletta eftir höfundi "Örvar, Kjartan B."

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    Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations 
    Ólafsson, Sigurgeir; Stridh, Pernilla; Bos, Steffan Daniël; Ingason, Andrés; Euesden, Jack; sulem, patrick; Thorleifsson, Gudmar; Gústafsson, Ómar; Jóhannesson, Ari; Geirsson, Árni J.; Þórsson, Árni V.; Sigurgeirsson, Bárður; Ludviksson, Bjorn; Ólafsson, Elías; Kristjansdottir, Helga; Jónasson, Jón G.; Ólafsson, Jón Hjaltalín; Örvar, Kjartan B.; Benediktsson, Rafn; Bjarnason, Ragnar Grímur; Kristjánsdóttir, Sjöfn; Gislason, Thorarinn; Valdimarsson, Trausti; Mikaelsdóttir, Evgenía; Sigurðsson, Snævar; Jonsson, Stefan; Rafnar, Thorunn; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Knudsen, Gun Peggy; Celius, Elisabeth G.; Myhr, Kjell-Morten; Gröndal, Gerður; Steinsson, Kristján; Valdimarsson, Helgi; Björnsson, Sigurður; Björnsdóttir, Unnur Steina; Björnsson, Einar Stefán; Nilsson, Bjorn; Andreassen, Ole A.; Alfredsson, Lars; Hillert, Jan; Kockum, Ingrid Skelton; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Hreinn; Hjaltason, Haukur; Harbo, Hanne F.; Olsson, Tomas; Jonsdottir, Ingileif; Stefansson, Kari (Springer Nature, 2017-08-08)
    A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported ...
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    A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease 
    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 (Springer Science and Business Media LLC, 2018-10-25)
    Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein ...