Zobrazeno 1 - 10
of 135
pro vyhledávání: '"M L Savontaus"'
Publikováno v:
Genome. 45:855-861
The organization of the mitochondrial DNA (mtDNA) control region (CR) of the autumnal moth, Epirrita autumnata, is described. The E. autumnata CR presents a distinct type of lepidopteran CR with domains of non-repetitive and repetitive sequences. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a6bf9dc310e16d6bda852858d67de5
https://doi.org/10.1139/g02-058
https://doi.org/10.1139/g02-058
Autor:
David Torrents, Antonio Zorzano, P Sanjurjo, M L Savontaus, Pertti Aula, Lidia Feliubadaló, Olli Simell, Juha Mykkänen, Manuel Palacín, Raúl Estévez, A Reinikainen, Marta Pineda, V. Nunes, Kirsi Huoponen, R. de Cid
Publikováno v:
Nature Genetics. 21:293-296
Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population; symptoms include failure to thrive, growth retardation, muscle hypotonia and hepatospl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c902cfafc22b6ee75866e3284780cc
https://doi.org/10.1038/6809
https://doi.org/10.1038/6809
Autor:
T, Lamminen, K, Huoponen, P, Sistonen, V, Juvonen, P, Lahermo, P, Aula, E, Nikoskelainen, M L, Savontaus
Publikováno v:
European Journal of Human Genetics. 5:271-279
The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was characterized by sequencing and restriction endonuclease analyses. All LHON-associated substitutions and Caucasoid haplogroup-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf7f065e5ef1e4758be247244f9e20ef
https://doi.org/10.1159/000484777
https://doi.org/10.1159/000484777
Publikováno v:
Ophthalmology. 103:504-514
Background: Leber hereditary optic neuropathy (LHON) is associated with primary and secondary mutations in mitochondrial DNA. Clinical studies suggest that there is a wide spectrum of clinical expression. Methods: Fifty-three affected and 131 unaffec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9736109a1b9cc6e48641322d2694d495
https://doi.org/10.1016/s0161-6420(96)30665-9
https://doi.org/10.1016/s0161-6420(96)30665-9
Autor:
Maria Raquel Santos Carvalho, E. Rötzer, Guntram Kommerell, B. Müller, T. Berninger, Thomas Meitinger, M.-L. Savontaus, A. Blankenagel, Birgit Lorenz
Publikováno v:
Human Heredity. 42:316-320
Leber's hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be04138b9bc98332374f258b3bba5056
https://doi.org/10.1159/000154089
https://doi.org/10.1159/000154089
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 114(24)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7d86f115e1afeb8d0545c148a8608c8
https://pubmed.ncbi.nlm.nih.gov/11757129
https://pubmed.ncbi.nlm.nih.gov/11757129
Autor:
H, Kalimo, T, Aho, K, Amberla, M, Baumann, R, Herva, V, Juvonen, K, Kalimo, H, Mononen, V, Myllylä, M, Pöyhönen, J, Rinne, M L, Savontaus, P, Sonninen, V, Sonninen, S, Tuisku, M, Viitanen
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 114(20)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5bbb311295a08ae2f77811dcf200e76
https://pubmed.ncbi.nlm.nih.gov/11717724
https://pubmed.ncbi.nlm.nih.gov/11717724
Autor:
E, Nikoskelainen, M L, Savontaus
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 114(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b77687363d290f2f551a635ed7b622c7
https://pubmed.ncbi.nlm.nih.gov/10895506
https://pubmed.ncbi.nlm.nih.gov/10895506
Autor:
T, Lauteala, J, Mykkänen, N, Horelli-Kuitunen, J, Aaltonen, P, Paavola, M L, Savontaus, O, Simell, P, Aula
Publikováno v:
Hereditas. 130(1)
Lysinuric protein intolerance is a recessively inherited metabolic disease characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Linkage analysis and further linkage dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27c495abc19683b5960c4712a73fcb64
https://pubmed.ncbi.nlm.nih.gov/10364825
https://pubmed.ncbi.nlm.nih.gov/10364825
Autor:
M L, Savontaus
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 110(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1940a15aa48fb6c2cd3c06febfdf1b78
https://pubmed.ncbi.nlm.nih.gov/8542818
https://pubmed.ncbi.nlm.nih.gov/8542818