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Fletta eftir höfundi "Thorisson, Gudmundur A."

Fletta eftir höfundi "Thorisson, Gudmundur A."

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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 ...
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    Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease 
    Sævarsdóttir, Sædís; Bjarnadottir, Kristbjörg; Markusson, Thorsteinn; Berglund, Jonas; Ólafsdóttir, Þórunn Ásta; Halldórsson, Gísli Hreinn; Rutsdottir, Gudrun; Gunnarsdottir, Kristbjorg; Arnthorsson, Asgeir Orn; Lund, Sigrun H.; Stefánsdóttir, Lilja; Gudmundsson, Julius; Jóhannesson, Ari J; Sturluson, Arni; Oddsson, Asmundur; Halldorsson, Bjarni; Lúðvíksson, Björn Rúnar; Ferkingstad, Egil; Ivarsdottir, Erna V.; Sveinbjornsson, Gardar; Gröndal, Gerður María; Masson, Gisli; Eldjarn, Grimur Hjorleifsson; Thorisson, Gudmundur A.; Kristjansdottir, Katla; Knowlton, Kirk U.; Moore, Kristjan H.S.; Gudjonsson, Sigurjon A.; Rognvaldsson, Solvi; Knight, Stacey; Nadauld, Lincoln D.; Holm, Hilma; Magnusson, Olafur T.; Sulem, Patrick; Gudbjartsson, Daniel F.; Rafnar, Thorunn; Thorleifsson, Gudmar; Melsted, Páll; Norddahl, Gudmundur L.; Jónsdóttir, Ingileif; Stefánsson, Kári (2024-12)
    Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants, 115 are previously unreported. Multiomics ...