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Page 1
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO. Runolfsdottir HL, et al. Among authors: thorsteinsdottir ua. Mol Genet Metab. 2019 Sep-Oct;128(1-2):144-150. doi: 10.1016/j.ymgme.2019.05.015. Epub 2019 May 28. Mol Genet Metab. 2019. PMID: 31378568 Free PMC article.
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d'Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K. Thorleifsson G, et al. Nat Genet. 2009 Aug;41(8):926-30. doi: 10.1038/ng.404. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561606
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d'Ancona FC, den Heijer M, Wetzels JF, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K. Gudbjartsson DF, et al. PLoS Genet. 2010 Jul 29;6(7):e1001039. doi: 10.1371/journal.pgen.1001039. PLoS Genet. 2010. PMID: 20686651 Free PMC article.
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
Styrkarsdottir U, Thorleifsson G, Helgadottir HT, Bomer N, Metrustry S, Bierma-Zeinstra S, Strijbosch AM, Evangelou E, Hart D, Beekman M, Jonasdottir A, Sigurdsson A, Eiriksson FF, Thorsteinsdottir M, Frigge ML, Kong A, Gudjonsson SA, Magnusson OT, Masson G; TREAT-OA Consortium; arcOGEN Consortium; Hofman A, Arden NK, Ingvarsson T, Lohmander S, Kloppenburg M, Rivadeneira F, Nelissen RG, Spector T, Uitterlinden A, Slagboom PE, Thorsteinsdottir U, Jonsdottir I, Valdes AM, Meulenbelt I, van Meurs J, Jonsson H, Stefansson K. Styrkarsdottir U, et al. Nat Genet. 2014 May;46(5):498-502. doi: 10.1038/ng.2957. Epub 2014 Apr 13. Nat Genet. 2014. PMID: 24728293
Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G, Mikaelsdottir E, Palsson R, Indridason OS, Holm H, Jonasdottir A, Helgason A, Sigurdsson S, Jonasdottir A, Sigurdsson A, Eyjolfsson GI, Sigurdardottir O, Magnusson OT, Kong A, Masson G, Sulem P, Olafsson I, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. Sveinbjornsson G, et al. Hum Mol Genet. 2014 Dec 20;23(25):6935-43. doi: 10.1093/hmg/ddu399. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082825
Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjörnsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K. Oddsson A, et al. Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975. Nat Commun. 2015. PMID: 26272126 Free PMC article.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IM, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R. Thorsteinsdottir M, et al. Among authors: thorsteinsdottir ua. J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:170-177. doi: 10.1016/j.jchromb.2016.09.018. Epub 2016 Sep 14. J Chromatogr B Analyt Technol Biomed Life Sci. 2016. PMID: 27770717 Free PMC article.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R. Edvardsson VO, et al. Among authors: thorsteinsdottir ua. Eur J Intern Med. 2018 Feb;48:75-79. doi: 10.1016/j.ejim.2017.10.007. Epub 2017 Dec 12. Eur J Intern Med. 2018. PMID: 29241594 Free PMC article.
Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177].
Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IMS, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R. Thorsteinsdottir M, et al. Among authors: thorsteinsdottir ua. J Chromatogr B Analyt Technol Biomed Life Sci. 2018 Aug 15;1092:530. doi: 10.1016/j.jchromb.2018.05.032. Epub 2018 Jun 1. J Chromatogr B Analyt Technol Biomed Life Sci. 2018. PMID: 29861153 Free PMC article. No abstract available.
477 results