Opin vísindi

Fletta eftir höfundi "Gudbjartsson, Daniel"

Fletta eftir höfundi "Gudbjartsson, Daniel"

Röðun: Raða: Niðurstöður:

  • Icon
    Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency 
    Runólfsdóttir, Hrafnhildur L.; Sayer, John A.; Indridason, Olafur S.; Eðvarðsson, Viðar Örn; Jensson, Brynjar O.; Arnadottir, Gudny A.; Gudjonsson, Sigurjon A.; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari; Pálsson, Runólfur (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
  • Icon
    Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity 
    Mbarek, Hamdi; Gordon, Scott D.; Duffy, David L.; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J.; Hottenga, Jouke Jan; Pool, René; Dolan, Conor V.; Actkins, Ky'Era V.; Gerring, Zachary F.; Van Dongen, Jenny; Ehli, Erik A.; Iacono, William G.; Mcgue, Matt; Chasman, Daniel I.; Gallagher, C. Scott; Schilit, Samantha L.P.; Morton, Cynthia C.; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C.; Olsen, Catherine M.; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K.E.; Pedersen, Nancy L.; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D.; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W.; Campos, Adrian I.; Ong, Ken K.; Perry, John R.B.; Lambalk, Cornelis B.; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E.; Yengo, Loic; Davis, Lea; Derks, Eske M.; Medland, Sarah E.; Stefansson, Hreinn; Stefánsson, Kári; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W.; Boomsma, Dorret I.; Martin, Nicholas G. (2024-01-01)
    STUDY QUESTION: Which genetic factors regulate female propensity for giving birth to spontaneous dizygotic (DZ) twins? SUMMARY ANSWER: We identified four new loci, GNRH1, FSHR, ZFPM1, and IPO8, in addition to previously identified loci, FSHB and SMAD3. ...
  • Icon
    Subclinical intestinal inflammation and sacroiliac changes in relatives of patients with ankylosing spondylitis 
    Bjarnason, Ingvar; Helgason, Kristján Orri; Geirsson, Árni Jón; Sigthorsson, Gudmundur; Reynisdóttir, Inga; Gudbjartsson, Daniel; Einarsdottir, Anna S; Sherwood, Roy; Kristjansson, Kristleifur; Kjartansson, Olafur; Thjodleifsson, Bjarni (2003-12-01)
    BACKGROUND & AIMS: It has been suggested that subclinical intestinal inflammation plays a pathogenic role in the spondylarthropathy of ankylosing spondylitis (AS). We assessed the possible presence and inheritance pattern of subclinical intestinal ...