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Fletta eftir höfundi "Ívarsdóttir, Erna V."

Fletta eftir höfundi "Ívarsdóttir, Erna V."

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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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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    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 (Springer Science and Business Media LLC, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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    A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy 
    Bjornsdottir, Gyda; Ívarsdóttir, Erna V.; Bjarnadóttir, Kristbjörg; Benonisdottir, Stefania; Gylfadottir, Sandra Sif; Arnadottir, Gudny; Benediktsson, Rafn; Halldorsson, Gisli; Helgadottir, Anna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Jonsdottir, Ingileif; Kristinsdóttir, Anna Margrét; Magnússon, Ólafur T.; Másson, Gísli; Melsted, Páll; Rafnar, Thorunn; Sigurðsson, Ásgeir; Sigurdsson, Gunnar; Skúladóttir, Ástrós; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Vikingsson, Arnor; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Hreinn; Thorsteinsdottir, Unnur; Norðdahl, Guðmundur L.; sulem, patrick; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Science and Business Media LLC, 2019-04-16)
    Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders ...
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    Sequence variants associating with urinary biomarkers 
    Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdóttir, Snædís; Ívarsdóttir, Erna V.; Tragante, Vinicius; Gunnarsson, Bjarni; Runolfsdottir, Hrafnhildur Linnet; Arthur, Joseph G; Deaton, Aimee M; Eyjolfsson, Gudmundur I; Davidsson, Olafur B; Asselbergs, Folkert W; Hreidarsson, Astradur B; Rafnar, Thorunn; Thorleifsson, Gudmar; Edvardsson, Vidar; Sigurdsson, Gunnar; Helgadottir, Anna; Halldórsson, Bjarni; Masson, Gisli; Holm, Hilma; Önundarson, Páll Torfi; Indridason, Olafur S; Benediktsson, Rafn; Palsson, Runolfur; Gudbjartsson, Daniel F; Olafsson, Isleifur; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Oxford University Press (OUP), 2018-11-24)
    Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. ...
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    Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density 
    Ívarsdóttir, Erna V.; Benonisdottir, Stefania; Thorleifsson, Gudmar; sulem, patrick; Oddsson, Asmundur; Styrkarsdottir, Unnur; Kristmundsdóttir, Snædís; Arnadottir, Gudny; Thorgeirsson, Gudmundur; Jonsdottir, Ingileif; Zoega, Gunnar M.; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Jónasson, Friðbert; Holm, Hilma; Stefansson, Kari (Springer Science and Business Media LLC, 2019-03-20)
    The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study of corneal endothelial cell density (cells/mm2), coefficient of cell size variation (CV), percentage of hexagonal ...