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Page 1
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: uusimaa j. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Among authors: uusimaa j. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 Free PMC article.
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: uusimaa j. 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.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM. Vieira P, et al. Among authors: uusimaa j. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. Mol Genet Metab. 2017. PMID: 28216384
Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.
Komulainen-Ebrahim J, Saastamoinen E, Rahikkala E, Helander H, Hinttala R, Risteli L, Rantala H, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: uusimaa j. Neuropediatrics. 2017 Dec;48(6):467-472. doi: 10.1055/s-0037-1603976. Epub 2017 Jun 30. Neuropediatrics. 2017. PMID: 28666289 No abstract available.
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: uusimaa j. 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.
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J, Pokka T, Komulainen-Ebrahim J, Myllynen P, Kärppä M, Pylvänen L, Kälviäinen R, Sokka A, Jyrkilä A, Lähdetie J, Haataja L, Mäkitalo A, Ylikotila P, Eriksson K, Haapala P, Ansakorpi H, Hinttala R, Vieira P, Majamaa K, Rantala H, Uusimaa J. Hynynen J, et al. Among authors: uusimaa j. Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26. Epilepsia. 2018. PMID: 30255931
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J, Schreiber JM, Kangas SM, Pylkäs K, Suo-Palosaari M, Rahikkala E, Liinamaa J, Immonen EV, Hassinen I, Myllynen P, Rantala H, Hinttala R, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: uusimaa j. Seizure. 2019 Jul;69:99-104. doi: 10.1016/j.seizure.2019.03.010. Epub 2019 Mar 19. Seizure. 2019. PMID: 31004928 Free article.
90 results