Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

49 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: tommiska j. 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.
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: tommiska j. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 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: tommiska j. Front Genet. 2021 Nov 25;12:786705. doi: 10.3389/fgene.2021.786705. eCollection 2021. Front Genet. 2021. PMID: 34899865 Free PMC article.
Evaluation of RAD50 in familial breast cancer predisposition.
Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, Jayatilake H, Bartkova J, Tallila J, Kaare M, Tamminen A, Heikkilä P, Evans DG, Eccles D, Aittomäki K, Blomqvist C, Bartek J, Stratton MR, Nevanlinna H, Rahman N. Tommiska J, et al. Int J Cancer. 2006 Jun 1;118(11):2911-6. doi: 10.1002/ijc.21738. Int J Cancer. 2006. PMID: 16385572 Free article.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. Götz A, et al. Among authors: tommiska j. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549344 Free PMC article.
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer.
Fagerholm R, Hofstetter B, Tommiska J, Aaltonen K, Vrtel R, Syrjäkoski K, Kallioniemi A, Kilpivaara O, Mannermaa A, Kosma VM, Uusitupa M, Eskelinen M, Kataja V, Aittomäki K, von Smitten K, Heikkilä P, Lukas J, Holli K, Bartkova J, Blomqvist C, Bartek J, Nevanlinna H. Fagerholm R, et al. Among authors: tommiska j. Nat Genet. 2008 Jul;40(7):844-53. doi: 10.1038/ng.155. Epub 2008 May 30. Nat Genet. 2008. PMID: 18511948
49 results