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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: stefansson k. Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018. Commun Biol. 2018. PMID: 30271932 Free PMC article.
A high-resolution recombination map of the human genome.
Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K. Kong A, et al. Among authors: stefansson k. Nat Genet. 2002 Jul;31(3):241-7. doi: 10.1038/ng917. Epub 2002 Jun 10. Nat Genet. 2002. PMID: 12053178
A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.
Karason A, Gudjonsson JE, Upmanyu R, Antonsdottir AA, Hauksson VB, Runasdottir EH, Jonsson HH, Gudbjartsson DF, Frigge ML, Kong A, Stefansson K, Valdimarsson H, Gulcher JR. Karason A, et al. Among authors: stefansson k. Am J Hum Genet. 2003 Jan;72(1):125-31. doi: 10.1086/345646. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474146 Free PMC article.
Recombination rate and reproductive success in humans.
Kong A, Barnard J, Gudbjartsson DF, Thorleifsson G, Jonsdottir G, Sigurdardottir S, Richardsson B, Jonsdottir J, Thorgeirsson T, Frigge ML, Lamb NE, Sherman S, Gulcher JR, Stefansson K. Kong A, et al. Among authors: stefansson k. Nat Genet. 2004 Nov;36(11):1203-6. doi: 10.1038/ng1445. Epub 2004 Oct 3. Nat Genet. 2004. PMID: 15467721
Familial risk of lung carcinoma in the Icelandic population.
Jonsson S, Thorsteinsdottir U, Gudbjartsson DF, Jonsson HH, Kristjansson K, Arnason S, Gudnason V, Isaksson HJ, Hallgrimsson J, Gulcher JR, Amundadottir LT, Kong A, Stefansson K. Jonsson S, et al. Among authors: stefansson k. JAMA. 2004 Dec 22;292(24):2977-83. doi: 10.1001/jama.292.24.2977. JAMA. 2004. PMID: 15613665
A common inversion under selection in Europeans.
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Nat Genet. 2005 Feb;37(2):129-37. doi: 10.1038/ng1508. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654335
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.
Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SF, Sainz J, O'Brien SJ, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Levey AI, Abramson JL, Reilly MP, Vaccarino V, Wolfe ML, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K. Helgadottir A, et al. Among authors: stefansson k. Nat Genet. 2006 Jan;38(1):68-74. doi: 10.1038/ng1692. Epub 2005 Nov 10. Nat Genet. 2006. PMID: 16282974
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.
Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, Helgason A, Stefansson H, Emilsson V, Helgadottir A, Styrkarsdottir U, Magnusson KP, Walters GB, Palsdottir E, Jonsdottir T, Gudmundsdottir T, Gylfason A, Saemundsdottir J, Wilensky RL, Reilly MP, Rader DJ, Bagger Y, Christiansen C, Gudnason V, Sigurdsson G, Thorsteinsdottir U, Gulcher JR, Kong A, Stefansson K. Grant SF, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2006 Mar;38(3):320-3. doi: 10.1038/ng1732. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415884
1,020 results