Opin vísindi

Browsing by Author "Jonasdottir, Aslaug"

Browsing by Author "Jonasdottir, Aslaug"

Sort by: Order: Results:

  • 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 ...
  • Arnadottir, Gudny A.; 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.; Asmundsson, Jurate; Steffensen, Thora; 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.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (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 ...
  • 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.; Indridason, Einar P.; 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 ...