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Page 1
Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.
Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Knuutila S. Siggberg L, et al. Among authors: saarela j. BMC Med Genet. 2014 Nov 18;15:124. doi: 10.1186/s12881-014-0124-3. BMC Med Genet. 2014. PMID: 25928284 Free PMC article. No abstract available.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: saarela j. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
A quality assessment survey of SNP genotyping laboratories.
Lahermo P, Liljedahl U, Alnaes G, Axelsson T, Brookes AJ, Ellonen P, Groop PH, Halldén C, Holmberg D, Holmberg K, Keinänen M, Kepp K, Kere J, Kiviluoma P, Kristensen V, Lindgren C, Odeberg J, Osterman P, Parkkonen M, Saarela J, Sterner M, Strömqvist L, Talas U, Wessman M, Palotie A, Syvänen AC. Lahermo P, et al. Among authors: saarela j. Hum Mutat. 2006 Jul;27(7):711-4. doi: 10.1002/humu.20346. Hum Mutat. 2006. PMID: 16786507
Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.
Näkki A, Kouhia ST, Saarela J, Harilainen A, Tallroth K, Videman T, Battié MC, Kaprio J, Peltonen L, Kujala UM. Näkki A, et al. Among authors: saarela j. BMC Med Genet. 2010 Mar 30;11:50. doi: 10.1186/1471-2350-11-50. BMC Med Genet. 2010. PMID: 20353565 Free PMC article.
Gender differences in genetic risk profiles for cardiovascular disease.
Silander K, Alanne M, Kristiansson K, Saarela O, Ripatti S, Auro K, Karvanen J, Kulathinal S, Niemelä M, Ellonen P, Vartiainen E, Jousilahti P, Saarela J, Kuulasmaa K, Evans A, Perola M, Salomaa V, Peltonen L. Silander K, et al. Among authors: saarela j, saarela o. PLoS One. 2008;3(10):e3615. doi: 10.1371/journal.pone.0003615. Epub 2008 Oct 31. PLoS One. 2008. PMID: 18974842 Free PMC article.
Genetic background of extreme violent behavior.
Tiihonen J, Rautiainen MR, Ollila HM, Repo-Tiihonen E, Virkkunen M, Palotie A, Pietiläinen O, Kristiansson K, Joukamaa M, Lauerma H, Saarela J, Tyni S, Vartiainen H, Paananen J, Goldman D, Paunio T. Tiihonen J, et al. Among authors: saarela j. Mol Psychiatry. 2015 Jun;20(6):786-92. doi: 10.1038/mp.2014.130. Epub 2014 Oct 28. Mol Psychiatry. 2015. PMID: 25349169 Free PMC article.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, Søndergaard HB, Harbo HF, Mero IL, Gabriel SB, Mirel DB, Hauser SL, Kappos L, Polman C, De Jager PL, Hafler DA, Daly MJ, Palotie A, Saarela J, Peltonen L. Jakkula E, et al. Among authors: saarela j. Am J Hum Genet. 2010 Feb 12;86(2):285-91. doi: 10.1016/j.ajhg.2010.01.017. Am J Hum Genet. 2010. PMID: 20159113 Free PMC article.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K. Hakonen AH, et al. Among authors: saarela j. Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31059209
285 results