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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: mottonen m. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A. Järviaho T, et al. Among authors: mottonen m. Br J Haematol. 2019 Apr;185(2):354-357. doi: 10.1111/bjh.15494. Epub 2018 Jul 13. Br J Haematol. 2019. PMID: 30004112 Free article. No abstract available.
Posterior Reversible Encephalopathy Syndrome: Risk Factors and Impact on the Outcome in Children With Acute Lymphoblastic Leukemia Treated With Nordic Protocols.
Banerjee JS, Heyman M, Palomäki M, Lähteenmäki P, Arola M, Riikonen PV, Möttönen MI, Lönnqvist T, Taskinen MH, Harila-Saari AH. Banerjee JS, et al. Among authors: mottonen mi. J Pediatr Hematol Oncol. 2018 Jan;40(1):e13-e18. doi: 10.1097/MPH.0000000000001009. J Pediatr Hematol Oncol. 2018. PMID: 29200159
168 results