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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021.
PLoS One. 2021.
PMID: 33534821
Free PMC article.
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
Heliö K, Kangas-Kontio T, Weckström S, Vanninen SUM, Aalto-Setälä K, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW.
Heliö K, et al.
BMC Med Genet. 2020 Jan 31;21(1):19. doi: 10.1186/s12881-020-0955-z.
BMC Med Genet. 2020.
PMID: 32005173
Free PMC article.
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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J.
Hathaway J, et al. Among authors: helio k.
BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5.
BMC Cardiovasc Disord. 2021.
PMID: 33673806
Free PMC article.
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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Heliö K, Mäyränpää MI, Saarinen I, Ahonen S, Junnila H, Tommiska J, Weckström S, Holmström M, Toivonen M, Nikus K, Hathaway J, Siivonen P, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T, Koskenvuo J.
Heliö K, et al.
Front Genet. 2021 Nov 25;12:786705. doi: 10.3389/fgene.2021.786705. eCollection 2021.
Front Genet. 2021.
PMID: 34899865
Free PMC article.
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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K.
Karvonen V, et al. Among authors: helio k.
J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6.
J Eur Acad Dermatol Venereol. 2022.
PMID: 35445468
Free PMC article.
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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K, Cicerchia M, Hathaway J, Tommiska J, Huusko J, Saarinen I, Koskinen L, Muona M, Kytölä V, Djupsjöbacka J, Gentile M, Salmenperä P, Alastalo TP, Steinberg C, Heliö T, Paananen J, Myllykangas S, Koskenvuo J.
Heliö K, et al.
Front Cardiovasc Med. 2023 Sep 19;10:1254272. doi: 10.3389/fcvm.2023.1254272. eCollection 2023.
Front Cardiovasc Med. 2023.
PMID: 37795486
Free PMC article.
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Successful palliative resection of giant epimyocardial lymphatic malformation with 14 years of follow-up: a case report.
Heliö K, Weckström S, Kivistö S, Lohi J, Heliö T.
Heliö K, et al.
BMC Cardiovasc Disord. 2023 Aug 23;23(1):414. doi: 10.1186/s12872-023-03449-8.
BMC Cardiovasc Disord. 2023.
PMID: 37612617
Free PMC article.
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DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.
Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW.
Heliö K, et al.
Front Cardiovasc Med. 2023 Mar 15;10:1130903. doi: 10.3389/fcvm.2023.1130903. eCollection 2023.
Front Cardiovasc Med. 2023.
PMID: 37008330
Free PMC article.
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