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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Among authors: jakkula e. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: jakkula e. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. Kousi M, et al. Among authors: jakkula e. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K. Hakonen AH, et al. Among authors: jakkula e. Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31059209
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
Kallio SP, Jakkula E, Purcell S, Suvela M, Koivisto K, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Bronnikov D, Viander M, Meri S, Hillert J, Lundmark F, Harbo HF, Lorentzen AR, De Jager PL, Daly MJ, Hafler DA, Palotie A, Peltonen L, Saarela J. Kallio SP, et al. Among authors: jakkula e. Hum Mol Genet. 2009 May 1;18(9):1670-83. doi: 10.1093/hmg/ddp073. Epub 2009 Feb 16. Hum Mol Genet. 2009. PMID: 19221116 Free PMC article.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, Søndergaard HB, Harbo HF, Mero IL, Gabriel SB, Mirel DB, Hauser SL, Kappos L, Polman C, De Jager PL, Hafler DA, Daly MJ, Palotie A, Saarela J, Peltonen L. Jakkula E, et al. Am J Hum Genet. 2010 Feb 12;86(2):285-91. doi: 10.1016/j.ajhg.2010.01.017. Am J Hum Genet. 2010. PMID: 20159113 Free PMC article.
The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients.
Luukkonen TM, Kiiski V, Ahola M, Mandelin J, Virtanen H, Pöyhönen M, Kivirikko S, Surakka I, Reitamo S, Palotie A, Heliövaara M, Jakkula E, Remitz A. Luukkonen TM, et al. Among authors: jakkula e. Acta Derm Venereol. 2017 Apr 6;97(4):456-463. doi: 10.2340/00015555-2578. Acta Derm Venereol. 2017. PMID: 27840886 Free article.
28 results