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Page 1
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR.
Bjornsson E, Gunnarsdottir K, Halldorsson GH, Sigurdsson A, Arnadottir GA, Jonsson H, Olafsdottir EF, Niehus S, Kehr B, Sveinbjörnsson G, Gudmundsdottir S, Helgadottir A, Andersen K, Thorleifsson G, Eyjolfsson GI, Olafsson I, Sigurdardottir O, Saemundsdottir J, Jonsdottir I, Magnusson OT, Masson G, Stefansson H, Gudbjartsson DF, Thorgeirsson G, Holm H, Halldorsson BV, Melsted P, Norddahl GL, Sulem P, Thorsteinsdottir U, Stefansson K. Bjornsson E, et al. Among authors: stefansson h, stefansson k. Circ Genom Precis Med. 2021 Feb;14(1):e003029. doi: 10.1161/CIRCGEN.120.003029. Epub 2020 Dec 14. Circ Genom Precis Med. 2021. PMID: 33315477
Genetic factors contribute to the risk of developing endometriosis.
Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Hum Reprod. 2002 Mar;17(3):555-9. doi: 10.1093/humrep/17.3.555. Hum Reprod. 2002. PMID: 11870102
A susceptibility gene for late-onset idiopathic Parkinson's disease.
Hicks AA, Pétursson H, Jónsson T, Stefánsson H, Jóhannsdóttir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefánsson K, Sveinbjörnsdóttir S. Hicks AA, et al. Among authors: stefansson h, stefansson k. Ann Neurol. 2002 Nov;52(5):549-55. doi: 10.1002/ana.10324. Ann Neurol. 2002. PMID: 12402251
Neuregulin 1 and schizophrenia.
Stefansson H, Steinthorsdottir V, Thorgeirsson TE, Gulcher JR, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Ann Med. 2004;36(1):62-71. doi: 10.1080/07853890310017585. Ann Med. 2004. PMID: 15000348 Review.
Multiple novel transcription initiation sites for NRG1.
Steinthorsdottir V, Stefansson H, Ghosh S, Birgisdottir B, Bjornsdottir S, Fasquel AC, Olafsson O, Stefansson K, Gulcher JR. Steinthorsdottir V, et al. Among authors: stefansson h, stefansson k. Gene. 2004 Nov 10;342(1):97-105. doi: 10.1016/j.gene.2004.07.029. Gene. 2004. PMID: 15527969
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
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.
Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, Zhao Y, Bernstein PS, Ge J, Jonasson F, Stefansson E, Helgadottir G, Zabriskie NA, Jonsson T, Björnsson A, Thorlacius T, Jonsson PV, Thorleifsson G, Kong A, Stefansson H, Zhang K, Stefansson K, Gulcher JR. Magnusson KP, et al. Among authors: stefansson e, stefansson h, stefansson k. PLoS Med. 2006 Jan;3(1):e5. doi: 10.1371/journal.pmed.0030005. Epub 2005 Nov 29. PLoS Med. 2006. PMID: 16300415 Free PMC article.
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
Support for involvement of the AHI1 locus in schizophrenia.
Ingason A, Sigmundsson T, Steinberg S, Sigurdsson E, Haraldsson M, Magnusdottir BB, Frigge ML, Kong A, Gulcher J, Thorsteinsdottir U, Stefansson K, Petursson H, Stefansson H. Ingason A, et al. Among authors: stefansson h, stefansson k. Eur J Hum Genet. 2007 Sep;15(9):988-91. doi: 10.1038/sj.ejhg.5201848. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473831 Free article.
320 results