Penttinen M - Search Results

1

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B. Hackman P, et al. Among authors: penttinen m. Muscle Nerve. 2005 Feb;31(2):199-204. doi: 10.1002/mus.20267. Muscle Nerve. 2005. PMID: 15736300

2

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

3

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Juvonen V, Nikoskelainen E, Lamminen T, Penttinen M, Aula P, Savontaus ML. Juvonen V, et al. Among authors: penttinen m. Hum Mutat. 1997;9(5):412-7. doi: 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5. Hum Mutat. 1997. PMID: 9143920

4

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML. Juvonen V, et al. Among authors: penttinen m. Ann Neurol. 2000 Sep;48(3):354-61. Ann Neurol. 2000. PMID: 10976642

5

Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.

Juvonen V, Kulmala SM, Ignatius J, Penttinen M, Savontaus ML. Juvonen V, et al. Among authors: penttinen m. Hum Genet. 2002 Jan;110(1):36-40. doi: 10.1007/s00439-001-0642-x. Epub 2001 Nov 14. Hum Genet. 2002. PMID: 11810294

6

[The claw hand: first sign of a metabolic disease].

Penttinen M, Aärimaa T, Aula P. Penttinen M, et al. Duodecim. 1999;115(3):289-93. Duodecim. 1999. PMID: 11830875 Finnish. No abstract available.

7

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.

8

Ring chromosome 20 mosaicism in a girl with complex partial seizures.

Holopainen I, Penttinen M, Lakkala T, Aärimaa T. Holopainen I, et al. Among authors: penttinen m. Dev Med Child Neurol. 1994 Jan;36(1):70-3. doi: 10.1111/j.1469-8749.1994.tb11768.x. Dev Med Child Neurol. 1994. PMID: 8132117

9

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.

10

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA. Vuorela PE, et al. Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704. Clin Dysmorphol. 2008. PMID: 18978652

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