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Träfflista för sökning "LAR1:oru srt2:(2000-2004);pers:(Möller Claes 1950)"

Sökning: LAR1:oru > (2000-2004) > Möller Claes 1950

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1.
  • Anniko, Matti, et al. (författare)
  • Örat
  • 2001
  • Ingår i: Öron, näs- och halssjukdomar, huvud- och halskirurgi. - Stockholm : Liber. - 91-47-04895-6 ; s. 9-103
  • Bokkapitel (övrigt vetenskapligt)
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2.
  • Astuto, L. M., et al. (författare)
  • CDH23 mutation and phenotype heterogeneity : a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
  • 2002
  • Ingår i: American Journal of Human Genetics. - 0002-9297. ; 71:2, s. 262-275
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.
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3.
  • Astuto, Lisa M., et al. (författare)
  • Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
  • 2000
  • Ingår i: American Journal of Human Genetics. - 0002-9297. ; 67:6, s. 1569-1574
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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4.
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5.
  • Fields, Randall R., et al. (författare)
  • Usher syndrome type III : revised genomic structure of the USH3 gene and identification of novel mutations
  • 2002
  • Ingår i: American Journal of Human Genetics. - 0002-9297. ; 71:3, s. 607-617
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5′ untranslated region, and a transcript encoding a 232–amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.
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6.
  • Kähäri, Kim, et al. (författare)
  • Assessment of hearing and hearing disorders in rock/jazz musicians : Evaluación de la audición y de los problemas auditivos en músicos de rock y jazz 
  • 2003
  • Ingår i: International Journal of Audiology. - Taylor & Francis. - 1499-2027. ; 42:5, s. 279-288
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of this study was to assess hearing and hearing disorders among rock/jazz musicians. One hundred and thirty-nine (43 women and 96 men) musicians participated. The results are based on pure-tone audiometry and questionnaire responses. According to our definition of hearing loss, tinnitus, hyperacusis, distortion and/ or diplacusis as hearing disorders, we found disorders in 74% of the rock/jazz musicians studied. Hearing loss, tinnitus and hyperacusis were most common, and the latter two were found significantly more frequently than in different reference populations. The women showed bilateral, significantly better hearing thresholds at 3-6 kHz than the men. Hyperacusis, and the combination of both hyperacusis and tinnitus, were found to be significantly more frequent among women than among men. Hearing loss and tinnitus were significantly more common among men than among women. It is important to evaluate all kinds of hearing problems (other than hearing loss) in musicians, since they represent an occupational group especially dependent on optimal, functional hearing. On the basis of our results, we suggest that hearing problems such as tinnitus, hyperacusis, distortion and/ or diplacusis should, in addition to hearing loss, be defined as hearing disorders.
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7.
  • Kähäri, Kim, et al. (författare)
  • Associations between hearing and psychosocial working conditions in rock/jazz musicians
  • 2003
  • Ingår i: Medical problems of performing artists. - 0885-1158. ; 18:3, s. 98-105
  • Tidskriftsartikel (refereegranskat)abstract
    • A study on the assessment of hearing and hearing disorders in rock/jazz musicians concluded that 74% of the musicians had some kind of disorder. The main hearing disorders found were pure-tone hearing loss, tinnitus (an acoustic sensation of sounds), hyperacusis (a hypersensitivity to low or moderate sound levels), and distortion (music sounds out of tune). Affected musicians often were able to give the exact time of the first appearance of the hearing disorders, which often was associated with a period of excessive sound exposure, high workload, or some form of emotional stress. The aim of this study was to explore associations between psychosocial work conditions, mental load, and hearing disorders in rock/jazz musicians. A total of 139 (43 women and 96 men) voluntarily participating rock/jazz musicians answered a questionnaire on psychosocial work conditions and mental load. The data were correlated to hearing and sex. The median age was 35 years in the women and 37 years in the men. Results showed that rock/jazz musicians do not generally experience themselves as stressed at work. The influence of working conditions is good, and the work consists mainly of attractive tasks. In men, hyperacusis was associated with higher psychological demands, greater difficulty in relaxing after work, higher stress during individual preparation, not getting enough sleep, and higher perceived sound level. In women, tinnitus was associated with greater difficulty in relaxing after work and less energy during musical performances. No strong correlation between psychosocial parameters and hearing loss was found. Positive and negative effects of stress on hearing are discussed
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8.
  • Möller, Claes, 1950- (författare)
  • Balance disorders
  • 2002
  • Ingår i: Paediatric audiological medicine. - London : Whurr Publishers. - 1-86156-228-4 ; s. 379-396
  • Bokkapitel (övrigt vetenskapligt)
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9.
  • Möller, Claes, 1950- (författare)
  • Balance disorders in children
  • 2003
  • Ingår i: Textbook of audiological medicine : clinical aspects of hearing and balance. - London : Martin Dunitz. - 1-901865-34-7 ; s. 861-868
  • Bokkapitel (övrigt vetenskapligt)
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10.
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  • Resultat 1-10 av 25
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