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Fletta eftir höfundi "Rafnar, Thorunn"

Fletta eftir höfundi "Rafnar, Thorunn"

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    Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank 
    Ólafsdóttir, Thorhildur; Thorleifsson, Gudmar; sulem, patrick; Stefánsson, Ólafur A.; Medek, Helga; Olafsson, Karl; Ingþórsson, Orri; Guðmundsson, Valur; Jonsdottir, Ingileif; Halldorsson, Gisli; Kristjansson, Ragnar; Frigge, Michael L.; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Oddsson, Asmundur; Sigurðsson, Ásgeir; Eggertsson, Hannes P.; Melsted, Páll; Halldórsson, Bjarni; Lund, Sigrún Helga; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Gudmundsson, Julius; Holm, Hilma; Tragante do O, Vinicius; Asselbergs, Folkert; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Jónsdóttir, Kristín; Rafnar, Thorunn; Stefansson, Kari (Springer Science and Business Media LLC, 2020-03-17)
    Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total ...
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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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    POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression 
    Gudmundsdottir, Bjorg; Gudmundsson, Kristbjorn Orri; Klarmann, Kimberly D.; Singh, Satyendra K.; Sun, Lei; Singh, Shweta; Du, Yang; Coppola, Vincenzo; Stockwin, Luke; Nguyen, Nhu; Tessarollo, Lino; Thorsteinsson, Leifur; Sigurjonsson, Olafur; Gudmundsson, Sveinn Vidar; Rafnar, Thorunn; Tisdale, John F.; Keller, Jonathan R. (Elsevier BV, 2018-06-12)
    Fetal globin genes are transcriptionally silenced during embryogenesis through hemoglobin switching. Strategies to derepress fetal globin expression in the adult could alleviate symptoms in sickle cell disease and β-thalassemia. We identified a zinc-finger ...
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    Profile of common prostate cancer risk variants in an unscreened Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Guðmundsson, Júlíus; 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; Manolescu, Andrei; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2017-12-20)
    To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male ...
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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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    Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits 
    Rafnar, Thorunn; Bjarni Gunnarsson; Ólafur A. Stefánsson; sulem, patrick; Ingason, Andrés; Frigge, Michael L.; Lilja Stefánsdóttir; Jón K. Sigurðsson; Tragante, Vinicius; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Stacey, Simon N.; Gudmundsson, Julius; Arnadottir, Gudny; Oddsson, Asmundur; Zink, Florian; Halldorsson, Gisli; Sveinbjornsson, Gardar; Kristjansson, Ragnar; Ólafur B. Davíðsson; Anna Þórhildur Salvarsdóttir; Ásgeir Thoroddsen; Elísabet A. Helgadottir; Katrín Kristjánsdóttir; Orri Ingþórsson; Valur Guðmundsson; Geirsson, Reynir T.; Ragnheiður Árnadottir; Gudbjartsson, Daniel; Másson, Gísli; Asselbergs, Folkert W.; Jón Gunnlaugur Jónasson; Karl Ólafsson; Thorsteinsdottir, Unnur; Halldórsson, Bjarni; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-09-07)
    Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with ...
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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 ...