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USP28 Deficiency Promotes Breast and Liver Carcinogenesis as well as Tumor Angiogenesis in a HIF-independent Manner.
Mol Cancer Res. 2018 Jun;16(6):1000-1012. doi: 10.1158/1541-7786.MCR-17-0452. Epub 2018 Mar 15.
Mol Cancer Res. 2018.
PMID: 29545478
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.
Paakkola T, Salokas K, Miinalainen I, Lehtonen S, Manninen A, Kaakinen M, Ruddock LW, Varjosalo M, Kaarteenaho R, Uusimaa J, Hinttala R.
Paakkola T, et al.
Hum Mol Genet. 2018 Dec 15;27(24):4288-4302. doi: 10.1093/hmg/ddy298.
Hum Mol Genet. 2018.
PMID: 30239752
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A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J.
Paakkola T, et al.
Clin Genet. 2018 Jan;93(1):173-177. doi: 10.1111/cge.13086. Epub 2017 Nov 24.
Clin Genet. 2018.
PMID: 28657126
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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: paakkola t.
Acta Neuropathol. 2018 May;135(5):727-742. doi: 10.1007/s00401-018-1817-z. Epub 2018 Feb 8.
Acta Neuropathol. 2018.
PMID: 29423877
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Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Keskinen S, Paakkola T, Mattila M, Hietala M, Koillinen H, Laine J, Haanpää MK.
Keskinen S, et al. Among authors: paakkola t.
Pediatr Dev Pathol. 2024 Mar-Apr;27(2):181-186. doi: 10.1177/10935266231210155. Epub 2023 Nov 19.
Pediatr Dev Pathol. 2024.
PMID: 37981638
Free PMC article.
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Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A.
Houge G, et al. Among authors: paakkola t.
Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01617-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38778080
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