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Page 1
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: savontaus ml. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: savontaus ml. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
Puomila A, Hämäläinen P, Kivioja S, Savontaus ML, Koivumäki S, Huoponen K, Nikoskelainen E. Puomila A, et al. Among authors: savontaus ml. Eur J Hum Genet. 2007 Oct;15(10):1079-89. doi: 10.1038/sj.ejhg.5201828. Epub 2007 Apr 4. Eur J Hum Genet. 2007. PMID: 17406640
A rare mitochondrial DNA haplotype observed in Koreans.
Snäll N, Savontaus ML, Kares S, Lee MS, Cho EK, Rinne JO, Huoponen K. Snäll N, et al. Among authors: savontaus ml. Hum Biol. 2002 Apr;74(2):253-62. doi: 10.1353/hub.2002.0024. Hum Biol. 2002. PMID: 12030653
Genetic counseling in Leber hereditary optic neuropathy (LHON).
Huoponen K, Puomila A, Savontaus ML, Mustonen E, Kronqvist E, Nikoskelainen E. Huoponen K, et al. Among authors: savontaus ml. Acta Ophthalmol Scand. 2002 Feb;80(1):38-43. doi: 10.1034/j.1600-0420.2002.800108.x. Acta Ophthalmol Scand. 2002. PMID: 11906302 Free article.
Regional differences among the Finns: a Y-chromosomal perspective.
Lappalainen T, Koivumäki S, Salmela E, Huoponen K, Sistonen P, Savontaus ML, Lahermo P. Lappalainen T, et al. Among authors: savontaus ml. Gene. 2006 Jul 19;376(2):207-15. doi: 10.1016/j.gene.2006.03.004. Epub 2006 Mar 18. Gene. 2006. PMID: 16644145
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Puomila A, et al. Among authors: savontaus ml. Acta Ophthalmol Scand. 2005 Jun;83(3):337-46. doi: 10.1111/j.1600-0420.2005.00448.x. Acta Ophthalmol Scand. 2005. PMID: 15948788 Free article.
[From East or West? The genetic roots of Finns].
Huoponen K, Lappalainen T, Savontaus ML. Huoponen K, et al. Among authors: savontaus ml. Duodecim. 2006;122(1):63-8. Duodecim. 2006. PMID: 16509191 Review. Finnish. No abstract available.
108 results