Search Results - "LEVO, A"

Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood by Levo, Antti, Koski, Anna, Ojanperä, Ilkka, Vuori, Erkki, Sajantila, Antti

“…Tramadol is an opioid drug metabolised in phase I by cytochrome P450 (CYP) enzymes, of which CYP2D6 is mainly responsible for the O-demethylation of tramadol,…”
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Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation by Lunetta, P, Levo, A, Männikkö, A, Penttilä, A, Sajantila, A

“…A 44-year-old woman with a medical history of mental disorders and previous suicidal behaviour was found in a bathtub and pronounced death few minutes later…”
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Single founder mutation (W380G) in type II protein C deficiency in Finland by Levo, A, Kuismanen, K, Holopainen, P, Vahtera, E, Rasi, V, Krusius, T, Partanen, J

“…The present study investigated the genetic basis for type II protein C deficiency in Finland, where this form has an unusually high incidence. We demonstrated…”
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An approach to mapping haplotype-specific recombination sites in human MHC class III by Levo, A, Westman, P, Partanen, J

“…Studies of the major histocompatibility complex (MHC) in mouse indicate that the recombination sites are not randomly distributed and their occurrence is…”
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CYP2D6 genotyping by a multiplex primer extension reaction by SISTONEN, Johanna, FUSELLI, Silvia, LEVO, Antti, SAJANTILA, Antti

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Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency : Good correlation in a well defined population by JÄÄSKELÄINEN, J, LEVO, A, VOUTILAINEN, R, PARTANEN, J

“…We report a population-wide analysis of all patients with 21-hydroxylase deficiency (21-OHD) found in Finland, a country with a genetically well defined…”
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Major histocompatibility complex (MHC)- linked microsatellite markers in a founder population by Karell, K., Klinger, N., Holopainen, P., Levo, A., Partanen, J.

“…The Finnish population is genetically relatively homogeneous and has a narrow gene pool as a result of founder effect followed by rapid population growth. We…”
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Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles by LEVO, A, PARTANEN, J

“…Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common inherited defect of adrenal steroid hormone biosynthesis. Unusually…”
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Novel mutations in the human CYP21 gene by Levo, Antti, Partanen, Jukka

“…The great majority of genetic defects underlying steroid 21‐hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21…”
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Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water by Lunetta, Philippe, Levo, Antti, Laitinen, Päivi J, Fodstad, Heidi, Kontula, Kimmo, Sajantila, Antti

“…The association of the long QT-syndrome (LQTS) with single accidental drowning or near-drowning cases has been recently emphasised, but no data on the…”
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A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction by LAJIC, S, LEVO, A, NIKOSHKOV, A, LUNDBERG, Y, PARTANEN, J, WEDELL, A

“…Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the…”
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Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia by Levo, Antii, Partanen, Jukka

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Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland by Levo, A, Jääskeläinen, J, Sistonen, P, Sirén, M K, Voutilainen, R, Partanen, J

“…The genealogic origin of steroid 21-hydroxylase gene (CYP21) mutations and associated haplotypes was determined in 74 unrelated Finnish families with CYP21…”
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The natural history of an HLA haplotype and its recombinants by D'Alfonso, S, Borelli, I, Dall'Omo, A, Bolognesi, E, Partanen, J, Levo, A, Pociot, F, Fan, L, Juji, T, Hammond, M, Tosi, R, Richiardi, P M

“…The presence of haplotype-specific recombination sites can be determined by analyzing the conservation of extended haplotypes in the population. This approach…”
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A rare neutral polymorphism in 21-hydroxylase genes as HLA haplotype marker: Evidence for strong founder effect in the finnish population by Narko, Kirsi, Levo, Antti, Partanen, Jukka

“…The usefulness of rare neutral gene polymorphisms as an HLA haplotype marker and as a probe for founder effect in small populations was tested by determining…”
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Myocardial segmentary viability patterns in patients with ischemic cardiomyopathy by Masoli, O., Baliño, N. Perez, Merettra, A., Levo, A. Di, Otero, F, Cragnolino, D.

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Prenatal dexamethasone treatment of 21-hydroxylase deficiency by Jääskeläinen, J, Partanen, J, Hippeläinen, M, Levo, A, Voutilainen, R

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