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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: gentile m. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenperä P, Koillinen H, Kaartinen M, Nieminen MS, Myllykangas S, Alastalo TP, Koskenvuo JW, Heliö T. Akinrinade O, et al. Among authors: gentile m. Eur Heart J. 2015 Sep 7;36(34):2327-37. doi: 10.1093/eurheartj/ehv253. Epub 2015 Jun 17. Eur Heart J. 2015. PMID: 26084686 Free PMC article.
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: gentile m. 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.
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. Among authors: gentile m. Front Genet. 2021 Nov 25;12:786705. doi: 10.3389/fgene.2021.786705. eCollection 2021. Front Genet. 2021. PMID: 34899865 Free PMC article.
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. Among authors: gentile m. 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.
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski TA, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA. Mäkinen N, et al. Among authors: gentile m. Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25. Science. 2011. PMID: 21868628
1,245 results