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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 4
2007 6
2008 4
2009 2
2010 3
2011 7
2012 7
2013 3
2014 6
2015 5
2016 3
2017 2
2019 1
2020 1
2021 3
2023 1
2024 0

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49 results

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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.
Gonadotropin-releasing hormone receptor mutations in ageing men.
Tommiska J, Känsäkoski J, Pitteloud N, Wu F, Raivio T. Tommiska J, et al. Clin Endocrinol (Oxf). 2016 Jan;84(1):150-1. doi: 10.1111/cen.12833. Epub 2015 Jul 1. Clin Endocrinol (Oxf). 2016. PMID: 26044071 No abstract available.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Messina A, Pulli K, Santini S, Acierno J, Känsäkoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederländer NJ, Giacobini P, Raivio T, Pitteloud N. Messina A, et al. Among authors: tommiska j. Am J Hum Genet. 2020 Jan 2;106(1):58-70. doi: 10.1016/j.ajhg.2019.12.003. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883645 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.
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: tommiska j. 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.
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
Vaaralahti K, Raivio T, Koivu R, Valanne L, Laitinen EM, Tommiska J. Vaaralahti K, et al. Among authors: tommiska j. Mol Syndromol. 2012 Jun;3(1):1-5. doi: 10.1159/000338706. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855648 Free PMC article.
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T. Tommiska J, et al. Eur J Med Genet. 2014 Jul;57(7):345-8. doi: 10.1016/j.ejmg.2014.04.002. Epub 2014 Apr 13. Eur J Med Genet. 2014. PMID: 24732674
PROKR2 mutations in autosomal recessive Kallmann syndrome.
Tommiska J, Toppari J, Vaaralahti K, Känsäkoski J, Laitinen EM, Noisa P, Kinnala A, Niinikoski H, Raivio T. Tommiska J, et al. Fertil Steril. 2013 Mar 1;99(3):815-8. doi: 10.1016/j.fertnstert.2012.11.003. Epub 2012 Nov 29. Fertil Steril. 2013. PMID: 23200691 Free article.
49 results