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Page 1
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Oddsson A, Steinthorsdottir V, Oskarsson GR, Styrkarsdottir U, Moore KHS, Isberg S, Halldorsson GH, Sveinbjornsson G, Westergaard D, Nielsen HS, Fridriksdottir R, Jensson BO, Arnadottir GA, Jonsson H, Sturluson A, Snaebjarnarson AS, Andreassen OA, Walters GB, Nyegaard M, Erikstrup C, Steingrimsdottir T, Lie RT, Melsted P, Jonsdottir I, Halldorsson BV, Thorleifsson G, Saemundsdottir J, Magnusson OT; DBDS Genomic Consortium; Banasik K, Sorensen E, Masson G, Pedersen OB, Tryggvadottir L, Haavik J, Ostrowski SR, Stefansson H, Holm H, Rafnar T, Gudbjartsson DF, Sulem P, Stefansson K. Oddsson A, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2024 Sep;56(9):1804-1810. doi: 10.1038/s41588-024-01885-6. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192094 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
Neuregulin 1 and susceptibility to schizophrenia.
Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, Brynjolfsson J, Gunnarsdottir S, Ivarsson O, Chou TT, Hjaltason O, Birgisdottir B, Jonsson H, Gudnadottir VG, Gudmundsdottir E, Bjornsson A, Ingvarsson B, Ingason A, Sigfusson S, Hardardottir H, Harvey RP, Lai D, Zhou M, Brunner D, Mutel V, Gonzalo A, Lemke G, Sainz J, Johannesson G, Andresson T, Gudbjartsson D, Manolescu A, Frigge ML, Gurney ME, Kong A, Gulcher JR, Petursson H, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Am J Hum Genet. 2002 Oct;71(4):877-92. doi: 10.1086/342734. Epub 2002 Jul 23. Am J Hum Genet. 2002. PMID: 12145742 Free PMC article.
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
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.
Association of neuregulin 1 with schizophrenia confirmed in a Scottish population.
Stefansson H, Sarginson J, Kong A, Yates P, Steinthorsdottir V, Gudfinnsson E, Gunnarsdottir S, Walker N, Petursson H, Crombie C, Ingason A, Gulcher JR, Stefansson K, St Clair D. Stefansson H, et al. Among authors: stefansson k. Am J Hum Genet. 2003 Jan;72(1):83-7. doi: 10.1086/345442. Epub 2002 Dec 11. Am J Hum Genet. 2003. PMID: 12478479 Free PMC article.
Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.
Reynisdottir I, Thorleifsson G, Benediktsson R, Sigurdsson G, Emilsson V, Einarsdottir AS, Hjorleifsdottir EE, Orlygsdottir GT, Bjornsdottir GT, Saemundsdottir J, Halldorsson S, Hrafnkelsdottir S, Sigurjonsdottir SB, Steinsdottir S, Martin M, Kochan JP, Rhees BK, Grant SF, Frigge ML, Kong A, Gudnason V, Stefansson K, Gulcher JR. Reynisdottir I, et al. Among authors: stefansson k. Am J Hum Genet. 2003 Aug;73(2):323-35. doi: 10.1086/377139. Epub 2003 Jul 8. Am J Hum Genet. 2003. PMID: 12851856 Free PMC article.
The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, Jonsdottir T, Gudmundsdottir T, Bjarnadottir SM, Einarsson OB, Gudjonsdottir HM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Andrason H, Gudmundsdottir AS, Sigurdardottir M, Chou TT, Nahmias J, Goss S, Sveinbjörnsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Gurney M, Gudbjartsson D, Frigge ML, Kong A, Stefansson K, Gulcher JR. Gretarsdottir S, et al. Among authors: stefansson k. Nat Genet. 2003 Oct;35(2):131-8. doi: 10.1038/ng1245. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517540 Free article.
Linkage of osteoporosis to chromosome 20p12 and association to BMP2.
Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SF, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. Styrkarsdottir U, et al. Among authors: stefansson k. PLoS Biol. 2003 Dec;1(3):E69. doi: 10.1371/journal.pbio.0000069. Epub 2003 Nov 3. PLoS Biol. 2003. PMID: 14691541 Free PMC article.
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke.
Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SF, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Gurney ME, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K. Helgadottir A, et al. Among authors: stefansson k. Nat Genet. 2004 Mar;36(3):233-9. doi: 10.1038/ng1311. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770184
1,064 results