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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: miinalainen i. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R. Uusimaa J, et al. Among authors: miinalainen i. Acta Neuropathol. 2018 May;135(5):727-742. doi: 10.1007/s00401-018-1817-z. Epub 2018 Feb 8. Acta Neuropathol. 2018. PMID: 29423877
Nhlrc2 is crucial during mouse gastrulation.
Hiltunen AE, Vuolteenaho R, Ronkainen VP, Miinalainen I, Uusimaa J, Lehtonen S, Hinttala R. Hiltunen AE, et al. Among authors: miinalainen i. Genesis. 2022 Mar;60(3):e23470. doi: 10.1002/dvg.23470. Epub 2022 Mar 8. Genesis. 2022. PMID: 35258166 Free PMC article.
Diazoxide Attenuates Ischemic Myocardial Injury in a Porcine Model.
Sarja HE, Anttila T, Mustonen C, Honkanen HP, Herajärvi J, Haapanen H, Tuominen H, Miinalainen I, Juvonen T, Anttila V. Sarja HE, et al. Among authors: miinalainen i. Heart Surg Forum. 2017 Aug 25;20(4):E153-E161. doi: 10.1532/hsf.1790. Heart Surg Forum. 2017. PMID: 28846530
Erbb4 regulates the oocyte microenvironment during folliculogenesis.
Veikkolainen V, Ali N, Doroszko M, Kiviniemi A, Miinalainen I, Ohlsson C, Poutanen M, Rahman N, Elenius K, Vainio SJ, Naillat F. Veikkolainen V, et al. Among authors: miinalainen i. Hum Mol Genet. 2020 Oct 10;29(17):2813-2830. doi: 10.1093/hmg/ddaa161. Hum Mol Genet. 2020. PMID: 32716031
Common and specific effects of TIE2 mutations causing venous malformations.
Nätynki M, Kangas J, Miinalainen I, Sormunen R, Pietilä R, Soblet J, Boon LM, Vikkula M, Limaye N, Eklund L. Nätynki M, et al. Among authors: miinalainen i. Hum Mol Genet. 2015 Nov 15;24(22):6374-89. doi: 10.1093/hmg/ddv349. Epub 2015 Aug 28. Hum Mol Genet. 2015. PMID: 26319232 Free PMC article.
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