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Page 1
Sequence variant at 4q25 near PITX2 associates with appendicitis.
Kristjansson RP, Benonisdottir S, Oddsson A, Galesloot TE, Thorleifsson G, Aben KK, Davidsson OB, Jonsson S, Arnadottir GA, Jensson BO, Walters GB, Sigurdsson JK, Sigurdsson S, Holm H, Arnar DO, Thorgeirsson G, Alexiusdottir K, Jonsdottir I, Thorsteinsdottir U, Kiemeney LA, Jonsson T, Gudbjartsson DF, Rafnar T, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: jensson bo. Sci Rep. 2017 Jun 8;7(1):3119. doi: 10.1038/s41598-017-03353-0. Sci Rep. 2017. PMID: 28596592 Free PMC article.
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
Kristjansson RP, Oddsson A, Helgason H, Sveinbjornsson G, Arnadottir GA, Jensson BO, Jonasdottir A, Jonasdottir A, Bragi Walters G, Sulem G, Oskarsdottir A, Benonisdottir S, Davidsson OB, Masson G, Magnusson OT, Holm H, Sigurdardottir O, Jonsdottir I, Eyjolfsson GI, Olafsson I, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Kristjansson RP, et al. Among authors: jensson bo. Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572. Nat Commun. 2016. PMID: 26838040 Free PMC article.
Epigenetic and genetic components of height regulation.
Benonisdottir S, Oddsson A, Helgason A, Kristjansson RP, Sveinbjornsson G, Oskarsdottir A, Thorleifsson G, Davidsson OB, Arnadottir GA, Sulem G, Jensson BO, Holm H, Alexandersson KF, Tryggvadottir L, Walters GB, Gudjonsson SA, Ward LD, Sigurdsson JK, Iordache PD, Frigge ML, Rafnar T, Kong A, Masson G, Helgason H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K. Benonisdottir S, et al. Among authors: jensson bo. Nat Commun. 2016 Nov 16;7:13490. doi: 10.1038/ncomms13490. Nat Commun. 2016. PMID: 27848971 Free PMC article.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: jensson bo. BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8. BMC Med Genet. 2017. PMID: 28965491 Free PMC article.
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, Benonisdottir S, Jonsson H, Helgason A, Saemundsdottir J, Magnusson OT, Masson G, Thorisson GA, Jonasdottir A, Jonasdottir A, Sigurdsson A, Jonsdottir I, Petursdottir V, Kristinsson JR, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Gudmundsson G, Stefansson K. Jensson BO, et al. BMC Med Genet. 2017 Nov 14;18(1):129. doi: 10.1186/s12881-017-0490-8. BMC Med Genet. 2017. PMID: 29137621 Free PMC article.
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
Helgadottir A, Sulem P, Thorgeirsson G, Gretarsdottir S, Thorleifsson G, Jensson BÖ, Arnadottir GA, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Among authors: jensson bo. Eur Heart J. 2018 Jun 14;39(23):2172-2178. doi: 10.1093/eurheartj/ehy169. Eur Heart J. 2018. PMID: 29596577 Free PMC article.
A rare missense variant in NR1H4 associates with lower cholesterol levels.
Deaton AM, Sulem P, Nioi P, Benonisdottir S, Ward LD, Davidsson OB, Lao S, Helgadottir A, Fan F, Jensson BO, Norddahl GL, Jonasdottir A, Jonasdottir A, Sigurdsson A, Kristjansson RP, Oddsson A, Arnadottir GA, Jonsson H, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Bjornsson ES, Olafsson S, Steingrimsdottir T, Rafnar T, Thorgeirsson G, Masson G, Thorleifsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K. Deaton AM, et al. Among authors: jensson bo. Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018. Commun Biol. 2018. PMID: 30271901 Free PMC article.
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J, Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: jensson bo. Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018. Commun Biol. 2018. PMID: 30271932 Free PMC article.
Identification of Lynch syndrome risk variants in the Romanian population.
Iordache PD, Mates D, Gunnarsson B, Eggertsson HP, Sulem P, Benonisdottir S, Csiki IE, Rascu S, Radavoi D, Ursu R, Staicu C, Calota V, Voinoiu A, Jinga M, Rosoga G, Danau R, Sima SC, Badescu D, Suciu N, Radoi V, Mates IN, Dobra M, Nicolae C, Kristjansdottir S, Jonasson JG, Manolescu A, Arnadottir G, Jensson B, Jonasdottir A, Sigurdsson A, le Roux L, Johannsdottir H, Rafnar T, Halldorsson BV, Jinga V, Stefansson K. Iordache PD, et al. J Cell Mol Med. 2018 Dec;22(12):6068-6076. doi: 10.1111/jcmm.13881. Epub 2018 Oct 16. J Cell Mol Med. 2018. PMID: 30324682 Free PMC article.
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Among authors: jensson bo. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339 Free article.
40 results