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Fletta eftir höfundi "Magnússon, Ólafur T."

Fletta eftir höfundi "Magnússon, Ólafur T."

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    COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA 
    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 (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
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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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    A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma 
    Smith, Dirk; Helgason, Hannes; sulem, patrick; Björnsdóttir, Unnur Steina; Lim, Ai Ching; Sveinbjornsson, Gardar; Hasegawa, Haruki; Brown, Michael; Ketchem, Randal R.; Gavala, Monica; Garrett, Logan; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Magnússon, Ólafur T.; Eyjólfsson, Guðmundur I.; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Sigurðardóttir, Ólöf; Gíslason, Davíð; Gislason, Thorarinn; Ludviksson, Bjorn; Lúðvíksdóttir, Dóra; Boezen, H. Marike; Heinzmann, Andrea; Krueger, Marcus; Porsbjerg, Celeste; Ahluwalia, Tarunveer S.; Waage, Johannes; Backer, Vibeke; Deichmann, Klaus A.; Koppelman, Gerard H.; Bønnelykke, Klaus; Bisgaard, Hans; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Johnston, James A.; Jonsdottir, Ingileif; Stefansson, Kari (Public Library of Science (PLoS), 2017-03-08)
    IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with ...
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    Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation 
    Bjornsdottir, Gyda; Benonisdottir, Stefania; Sveinbjornsson, Gardar; Styrkarsdottir, Unnur; Þorleifsson, Guðmar; Walters, G. Bragi; Björnsson, Aron; Ólafsson, Ingvar Hákon; Úlfarsson, Elfar; Víkingsson, Arnór; Hansdóttir, Ragnheiður; Karlsson, Karl O.; Rafnar, Thorunn; Jonsdottir, Ingileif; Frigge, Michael L.; Kong, Augustine; Oddsson, Asmundur; Másson, Gísli; Magnússon, Ólafur T.; Gudbjartsson, Tomas; Stefánsson, Hreinn; sulem, patrick; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Nature, 2017-02-22)
    Lumbar disc herniation (LDH) is common and often debilitating. Microdiscectomy of herniated lumbar discs (LDHsurg) is performed on the most severe cases to resolve the resulting sciatica. Here we perform a genome-wide association study on 4,748 LDHsurg ...
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    Whole genome characterization of sequence diversity of 15,220 Icelanders 
    Jónsson, Hákon; sulem, patrick; Kehr, Birte; Kristmundsdóttir, Snædís; Zink, Florian; Hjartarson, Eiríkur; Hardarson, Marteinn; Hjorleifsson, Kristjan; Eggertsson, Hannes; Guðjónsson, Sigurjón Axel; Ward, Lucas D.; Arnadottir, Gudny; Helgason, Einar A.; Helgason, Hannes; Gylfason, Arnaldur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Rafnar, Thorunn; Besenbacher, Soren; Frigge, Michael L.; Stacey, Simon N.; Magnússon, Ólafur T.; Þorsteinsdóttir, Unnur; Másson, Gísli; Kong, Augustine; Halldórsson, Bjarni; Helgason, Agnar; Gudbjartsson, Daniel; Stefansson, Kari (Springer Nature, 2017-09-21)
    Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide ...