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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: kettunen k. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K. Karvonen V, et al. Among authors: kettunen k. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6. J Eur Acad Dermatol Venereol. 2022. PMID: 35445468 Free PMC article.
Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health.
Marabita F, James T, Karhu A, Virtanen H, Kettunen K, Stenlund H, Boulund F, Hellström C, Neiman M, Mills R, Perheentupa T, Laivuori H, Helkkula P, Byrne M, Jokinen I, Honko H, Kallonen A, Ermes M, Similä H, Lindholm M, Widén E, Ripatti S, Perälä-Heape M, Engstrand L, Nilsson P, Moritz T, Miettinen T, Sallinen R, Kallioniemi O. Marabita F, et al. Among authors: kettunen k. Cell Syst. 2022 Mar 16;13(3):241-255.e7. doi: 10.1016/j.cels.2021.11.001. Epub 2021 Dec 1. Cell Syst. 2022. PMID: 34856119 Free article.
Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells.
Hetemäki I, Kaustio M, Kinnunen M, Heikkilä N, Keskitalo S, Nowlan K, Miettinen S, Sarkkinen J, Glumoff V, Andersson N, Kettunen K, Vanhanen R, Nurmi K, Eklund KK, Dunkel J, Mäyränpää MI, Schlums H, Arstila TP, Kisand K, Bryceson YT, Peterson P, Otava U, Syrjänen J, Saarela J, Varjosalo M, Kekäläinen E. Hetemäki I, et al. Among authors: kettunen k. Sci Immunol. 2021 Nov 26;6(65):eabe3454. doi: 10.1126/sciimmunol.abe3454. Epub 2021 Nov 26. Sci Immunol. 2021. PMID: 34826260
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K. Harjama L, et al. Among authors: kettunen k. J Eur Acad Dermatol Venereol. 2021 Sep;35(9):1874-1880. doi: 10.1111/jdv.17314. Epub 2021 May 21. J Eur Acad Dermatol Venereol. 2021. PMID: 33914963
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.
Harjama L, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Lappalainen K, Saarela J, Alby C, Ranki A, Kere J, Hadj-Rabia S, Hannula-Jouppi K. Harjama L, et al. Among authors: kettunen k. Acta Derm Venereol. 2020 Feb 25;100(4):adv00060. doi: 10.2340/00015555-3404. Acta Derm Venereol. 2020. PMID: 31944258 Free PMC article. No abstract available.
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
Hannula-Jouppi K, Harjama L, Einarsdottir E, Elomaa O, Kettunen K, Saarela J, Soronen M, Bouchard L, Lappalainen K, Heikkilä H, Kivirikko S, Seppänen MRJ, Kere J, Ranki A. Hannula-Jouppi K, et al. Among authors: kettunen k. J Am Acad Dermatol. 2020 Aug;83(2):643-645. doi: 10.1016/j.jaad.2019.11.004. Epub 2019 Nov 7. J Am Acad Dermatol. 2020. PMID: 31706940 Free article. No abstract available.
151 results