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Page 1
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.
Who would benefit from exome sequencing?
Saarela J, Kettunen K. Saarela J, et al. Among authors: kettunen k. Duodecim. 2017;133(5):481-8. Duodecim. 2017. PMID: 29205997
Germline alterations in a consecutive series of acute myeloid leukemia.
Wartiovaara-Kautto U, Hirvonen EAM, Pitkänen E, Heckman C, Saarela J, Kettunen K, Porkka K, Kilpivaara O. Wartiovaara-Kautto U, et al. Among authors: kettunen k. Leukemia. 2018 Oct;32(10):2282-2285. doi: 10.1038/s41375-018-0049-5. Epub 2018 Apr 10. Leukemia. 2018. PMID: 29632341 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.
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.
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
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
154 results