Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Seija Uimonen"'
Publikováno v:
Human Genetics. 108:284-289
The relationship between the phenotype and the genotype is complex in diseases caused by mutations in mitochondrial DNA (mtDNA). The 3243A--G mutation in mtDNA frequently leads to sensorineural hearing impairment (HI), a phenotype that can be assesse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541ab0c2f6c93bfb5595b082952850ab
https://doi.org/10.1007/s004390100475
https://doi.org/10.1007/s004390100475
Publikováno v:
European Journal of Human Genetics. 8:315-318
Several point mutations in mitochondrial DNA (mtDNA) have been shown to cause sensorineural hearing impairment (SNHI), but the frequency of these mutations among patients is not known. We identified 117 patients with possible matrilineal SNHI from po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9887dc0b4e13fdeb14224028b1d8c047
https://doi.org/10.1038/sj.ejhg.5200455
https://doi.org/10.1038/sj.ejhg.5200455
Publikováno v:
British Journal of Audiology. 33:53-59
The cross-sectional population sample studied here was randomly selected from the population register of northern Finland. The subjects comprised 10 different age groups between 2 and 75 years of age. Pure tone averages over the frequencies of both 0
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e086c7bbc0712ac83959ddd1e91b371a
https://doi.org/10.3109/03005364000000099
https://doi.org/10.3109/03005364000000099
Autor:
Harri Rusanen, Kirsi Majamaa-Voltti, Jukka S. Moilanen, Ilmo E. Hassinen, Kari Majamaa, Anne M. Remes, Mikko Kärppä, Pasi I. Salmela, Keijo Peuhkurinen, Seija Uimonen, Martti Sorri
Publikováno v:
The American Journal of Human Genetics. 63:447-454
SummaryMitochondrial diseases are characterized by considerable clinical variability and are most often caused by mutations in mtDNA. Because of the phenotypic variability, epidemiological studies of the frequency of these disorders have been difficu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d73cfd9fc0886b7073799e2eb6f840
https://doi.org/10.1086/301959
https://doi.org/10.1086/301959
Publikováno v:
Medical Engineering & Physics. 18:405-409
In static posturography, proprioception is often disturbed using vibrators applied bilaterally to the calf muscles. The effect of vibrator amplitude on body sway was compared in static posturography using bilateral vibrators on the calf muscles of 30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526c2e1d391373539faddaaea7494256
https://doi.org/10.1016/1350-4533(96)00079-3
https://doi.org/10.1016/1350-4533(96)00079-3
Publikováno v:
Journal of Vestibular Research. 5:117-124
Voluntary, simulated vertigo and acute vertigo due to vestibular neuritis were examined by means of static posturography in 81 tests to evaluate the extent to which intentional malingering can be detected. Thirty healthy, normal subjects were first i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1944d702cff8cebc0bc9dd89e060752
https://doi.org/10.3233/ves-1995-5203
https://doi.org/10.3233/ves-1995-5203
Autor:
Anne M. Remes, Kirsi Majamaa-Voltti, Seija Uimonen, J. Pyhtinen, S. Winqvist, Martti Sorri, Keijo Peuhkurinen, Mikko Kärppä, Kari Majamaa, U. Tolonen
Publikováno v:
Neurology. 66(10)
Objective: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years. Methods: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7278df0c6a147084eff86992e28cd87
https://pubmed.ncbi.nlm.nih.gov/17210904
https://pubmed.ncbi.nlm.nih.gov/17210904
Publikováno v:
Scandinavian Audiology. 30:83-84
A computerized adaptive Finnish speech-in-noise test has recently been developed. The purpose of the present study was to measure speech recognition thresholds in noise (SRTN) in patients with sensorineural hearing impairment (SNHI) caused by mitocho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab1a329bd28ef04ec11de5904579246b
https://doi.org/10.1080/010503901300007155
https://doi.org/10.1080/010503901300007155
Autor:
Kyösti Laitakari, Seija Uimonen
Publikováno v:
Scandinavian Audiology. 30:165-166
A computerized adaptive Finnish speech in noise test was developed recently. As part of the test's evaluation process 172 patients with sensorineural hearing loss including 20 normally hearing subjects were measured using pure-tone audiometry, speech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ed22498b5d8f0790ae38193eef2440
https://doi.org/10.1080/010503901300007416
https://doi.org/10.1080/010503901300007416
Publikováno v:
Acta Oto-Laryngologica. 117:69-70
A total of 5,400 persons from different age groups was randomly selected from the population register for the study, and of the 1,620 55 to 75 year old persons invited, 1,233 attended the check-ups (76.1%). Air conduction pure tone thresholds were me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2c0b4cb784d5fa93dfbb6d6007c421
https://doi.org/10.3109/00016489709124084
https://doi.org/10.3109/00016489709124084