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Page 1
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.
Keskitalo S, Haapaniemi E, Einarsdottir E, Rajamäki K, Heikkilä H, Ilander M, Pöyhönen M, Morgunova E, Hokynar K, Lagström S, Kivirikko S, Mustjoki S, Eklund K, Saarela J, Kere J, Seppänen MRJ, Ranki A, Hannula-Jouppi K, Varjosalo M. Keskitalo S, et al. Front Immunol. 2019 Dec 5;10:2770. doi: 10.3389/fimmu.2019.02770. eCollection 2019. Front Immunol. 2019. PMID: 31866997 Free PMC article.
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. 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
Genetic susceptibility to non-necrotizing erysipelas/cellulitis.
Hannula-Jouppi K, Massinen S, Siljander T, Mäkelä S, Kivinen K, Leinonen R, Jiao H, Aitos P, Karppelin M, Vuopio J, Syrjänen J, Kere J. Hannula-Jouppi K, et al. PLoS One. 2013;8(2):e56225. doi: 10.1371/journal.pone.0056225. Epub 2013 Feb 20. PLoS One. 2013. PMID: 23437094 Free PMC article.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
The mutation spectrum in RECQL4 diseases.
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
Bao EL, Nandakumar SK, Liao X, Bick AG, Karjalainen J, Tabaka M, Gan OI, Havulinna AS, Kiiskinen TTJ, Lareau CA, de Lapuente Portilla AL, Li B, Emdin C, Codd V, Nelson CP, Walker CJ, Churchhouse C, de la Chapelle A, Klein DE, Nilsson B, Wilson PWF, Cho K, Pyarajan S, Gaziano JM, Samani NJ; FinnGen; 23andMe Research Team; Regev A, Palotie A, Neale BM, Dick JE, Natarajan P, O'Donnell CJ, Daly MJ, Milyavsky M, Kathiresan S, Sankaran VG. Bao EL, et al. Nature. 2020 Oct;586(7831):769-775. doi: 10.1038/s41586-020-2786-7. Epub 2020 Oct 14. Nature. 2020. PMID: 33057200 Free PMC article.
64 results