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Fletta eftir höfundi "Jonasdottir, Aslaug"

Fletta eftir höfundi "Jonasdottir, Aslaug"

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    Identification of Lynch syndrome risk variants in the Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Mates, Ioan Nicolae; Dobra, Mihai; Nicolae, Camelia; Kristjansdottir, Sigrun; Jónasson, Jón G.; Manolescu, Andrei; Arnadottir, Gudny; Jensson, Brynjar Örn; Jonasdottir, Aslaug; Sigurdsson, Asgeir; le Roux, Louise; Johannsdottir, Hrefna; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2018-10-16)
    Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information ...
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    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    Klemenzdottir, Elin Ola; Arnadottir, Gudny A; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jónsson, Jón Jóhannes; Stefánsdóttir, Vigdís Fjóla; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar Sturla; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Björnsson, Hans Tómas; Stefansson, Kari; Sulem, Patrick (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R.; Oddsson, Asmundur; Magnusson, Magnus K.; Kristjansson, Ragnar P.; Halldorsson, Gisli H.; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V.; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M.; Lee, Amy L.; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K.; Davidsson, Olafur B.; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (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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    Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura 
    Bjornsdottir, Gyda; Chalmer, Mona A.; Stefánsdóttir, Lilja; Skuladottir, Astros Th; Einarsson, Gudmundur; Andrésdóttir, Margrét; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldórsson, Bjarni Vilhjálmur; Halldórsson, Gísli Hreinn; Helgadottir, Anna; Helgason, Hannes; Hjorleifsson Eldjarn, Grimur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Jónsdóttir, Ingileif; Knowlton, Kirk U.; Nadauld, Lincoln D.; Lund, Sigrún Helga; Magnusson, Olafur Th; Melsted, Páll; Moore, Kristjan H.S.; Oddsson, Asmundur; Olason, Pall I.; Sigurdsson, Asgeir; Stefansson, Olafur A.; Saemundsdottir, Jona; Sveinbjornsson, Gardar; Tragante, Vinicius; Unnsteinsdottir, Unnur; Walters, Guðmundur Bragi; Zink, Florian; Rødevand, Linn; Andreassen, Ole A.; Igland, Jannicke; Lie, Rolv T.; Haavik, Jan; Banasik, Karina; Brunak, Søren; Didriksen, Maria; T. Bruun, Mie; Erikstrup, Christian; Kogelman, Lisette J.A.; Nielsen, Kaspar R.; Sørensen, Erik; Pedersen, Ole B.; Ullum, Henrik; Bay, Jakob; Boldsen, Jens K.; Brodersen, Thorsten; Burgdorf, Kristoffer; Dinh, Khoa M.; Dowsett, Joseph; Feenstra, Bjarke; Geller, Frank; Hindhede, Lotte; Hjalgrim, Henrik; Jacobsen, Rikke L.; Jemec, Gregor; Kaspersen, Katrine; Kjerulf, Bertram D.; Larsen, Margit A.H.; Louloudis, Ioannis; Lundgaard, Agnete; Mikkelsen, Susan; Mikkelsen, Christina; Nissen, Ioanna; Nyegaard, Mette; Henriksen, Alexander P.; Rohde, Palle D.; Rostgaard, Klaus; Swinn, Michael; Thørner, Lise W.; Bruun, Mie T.; Werge, Thomas; Westergaard, David; Masson, Gisli; Þorsteinsdóttir, Unnur; Olesen, Jes; Ludvigsson, Petur; Thorarensen, Ólafur; Bjornsdottir, Anna; Sigurdardottir, Gudrun R.; Sveinsson, Ólafur Árni; Ostrowski, Sisse R.; Holm, Hilma; Gudbjartsson, Daniel F.; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Hreinn; Thorgeirsson, Thorgeir E.; Hansen, Thomas F.; Stefánsson, Kári (2023-11)
    Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine ...
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    Sequence variants in malignant hyperthermia genes in Iceland : classification and actionable findings in a population database 
    Fridriksdottir, Run; Jónsson, Arnar Jan; Jensson, Brynjar O.; Sverrisson, Kristinn O.; Arnadottir, Gudny A.; Skarphéðinsdóttir, Sigurbjorg J.; Katrinardottir, Hildigunnur; Snaebjornsdottir, Steinunn; Jonsson, Hakon; Eiriksson, Ogmundur; Óskarsson, Guðjón Reykdal; Oddsson, Asmundur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Gisli H.; Indriðason, Einar Páll; Sigurðsson, Stefán B.; Bjornsdottir, Gyda; Saemundsdottir, Jona; Magnusson, Olafur T.; Björnsson, Hans Tómas; Thorsteinsdottir, Unnur; Sigurdsson, Theodor S.; Sulem, Patrick; Sigurðsson, Martin Ingi; Stefansson, Kari (2021-08-31)
    Malignant hyperthermia (MH) susceptibility is a rare life-threatening disorder that occurs upon exposure to a triggering agent. MH is commonly due to protein-altering variants in RYR1 and CACNA1S. The American College of Medical Genetics and Genomics ...