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Fletta eftir höfundi "Ágústsdóttir, Arna B."

Fletta eftir höfundi "Ágústsdóttir, Arna B."

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    GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures 
    Styrkarsdottir, Unnur; Stefansson, Olafur A.; Gunnarsdottir, Kristbjorg; Thorleifsson, Gudmar; Lund, Sigrún Helga; Stefansdottir, Lilja; Juliusson, Kristinn; Ágústsdóttir, Arna B.; Zink, Florian; Halldorsson, Gisli; Ivarsdottir, Erna V.; Benonisdottir, Stefania; Jonsson, Hakon; Gylfason, Arnaldur; Norland, Kristjan; Trajanoska, Katerina; Boer, Cindy G.; Southam, Lorraine; Leung, Jason C. S.; Tang, Nelson L. S.; Kwok, Timothy C. Y.; Lee, Jenny S. W.; Ho, Suzanne C.; Byrjalsen, Inger; Center, Jacqueline R.; Lee, Seung Hun; Koh, Jung-Min; Lohmander, L. Stefan; Ho-Pham, Lan T.; Nguyen, Tuan V.; Eisman, John A.; Woo, Jean; Leung, Ping-C.; Loughlin, John; Zeggini, Eleftheria; Christiansen, Claus; Rivadeneira, Fernando; van Meurs, Joyce; Uitterlinden, Andre G.; Mogensen, Brynjólfur; Jonsson, Helgi; Ingvarsson, Þorvaldur; Sigurdsson, Gunnar; Benediktsson, Rafn; sulem, patrick; Jonsdottir, Ingileif; Másson, Gísli; Holm, Hilma; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Kari (Springer Science and Business Media LLC, 2019-05-03)
    Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci ...
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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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    MAP1B mutations cause intellectual disability and extensive white matter deficit 
    Walters, G. Bragi; Gústafsson, Ómar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur Kristin; Ágústsdóttir, Arna B.; Jónsdóttir, Guðrún A.; Steinberg, Stacy; Gunnarsson, Árni F.; Magnússon, Magnús I.; Unnsteinsdóttir, Unnur; Lee, Amy L.; Jónasdóttir, Aðalbjörg; Sigurðsson, Ásgeir; Jónasdóttir, Áslaug; Skúladóttir, Ástrós; Jonsson, Lina; Nawaz, Muhammad S.; sulem, patrick; Frigge, Mike; Ingason, Andrés; Love, Askell; Norðdahl, Guðmundur L.; Zervas, Mark; Gudbjartsson, Daniel; Ulfarsson, Magnus; Sæmundsen, Evald E.; Stefansson, Hreinn; Stefansson, Kari (Springer Science and Business Media LLC, 2018-08-27)
    Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant ...