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Detection of the founder effect in Finnish CADASIL families.
Mykkänen K, Savontaus ML, Juvonen V, Sistonen P, Tuisku S, Tuominen S, Penttinen M, Lundkvist J, Viitanen M, Kalimo H, Pöyhönen M. Mykkänen K, et al. Among authors: penttinen m. Eur J Hum Genet. 2004 Oct;12(10):813-9. doi: 10.1038/sj.ejhg.5201221. Eur J Hum Genet. 2004. PMID: 15378071
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Among authors: penttinen m. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.
Early ultrasound diagnosis of fetal intracranial tumors.
Palo P, Penttinen M, Kalimo H. Palo P, et al. Among authors: penttinen m. J Clin Ultrasound. 1994 Sep;22(7):447-50. doi: 10.1002/jcu.1870220707. J Clin Ultrasound. 1994. PMID: 7962593 No abstract available.
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Nellist M, et al. Among authors: penttinen m. Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830229 Free PMC article.
62 results