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Träfflista för sökning "WFRF:(Jacobson M.) srt2:(2000-2004)"

Sökning: WFRF:(Jacobson M.) > (2000-2004)

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  • Ahrens, J., et al. (författare)
  • Results from the Antarctic muon and nuetrino detector array
  • 2003
  • Ingår i: Nuclear physics B, Proceedings supplements. - : Elsevier. - 0920-5632 .- 1873-3832. ; 118, s. 371-379
  • Tidskriftsartikel (refereegranskat)abstract
    • We show new results from both the older and newer incarnations of AMANDA (AMANDA-B10 and AMANDA-II, respectively). These results demonstrate that AMANDA is a functioning, multipurpose detector with significant physics and astrophysics reach. They include a new higher-statistics measurement of the atmospheric muon neutrino flux and preliminary results from searches for a variety of sources of ultrahigh energy neutrinos: generic point sources, gamma-ray bursters and diffuse sources producing muons in the detector, and diffuse sources producing electromagnetic or hadronic showers in or near the detector.
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  • 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. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 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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  • Acar, C, et al. (författare)
  • Mutation screening of patients with Leber congenital amaurosis or the enhanced S-cone syndrome reveals a lack of sequence variations in the NRL gene
  • 2003
  • Ingår i: Molecular Vision. - 1090-0535. ; 9:3-4, s. 14-17
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes photoreceptor rosettes with blue cone opsin. The 5' upstream region (putative promoter), untranslated exon 1, coding exons 2 and 3, and exon-intron boundaries of the NRL gene were analyzed by direct sequencing of the PCR-amplified products. Results: Complete sequencing of the NRL gene in DNA samples from this cohort of patients revealed only one nucleotide change. The C->G transversion at nucleotide 711 of NRL exon 3 was detected in one LCA patient; however, this change did not alter the amino acid (L237L). Conclusions: No potential disease causing mutation was identified in the NRL gene in patients with LCA, ESCS, or the atypical retinal degeneration. Together with previous studies, our results demonstrate that mutations in the NRL gene are not a major cause of retinopathy. To date, only missense changes have been reported in adRP patients, and sequence variations are rare. It is possible that the loss of NRL function in humans is associated with a more complex clinical phenotype due to its expression in pineal gland in addition to rod photoreceptors.
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  • Bergman, F, et al. (författare)
  • The effect of reduced contact area on the occurrence of disc brake squeals for an automotive brake pad
  • 2000
  • Ingår i: PROCEEDINGS OF THE INSTITUTION OF MECHANICAL ENGINEERS PART D-JOURNAL OF AUTOMOBILE ENGINEERING. - : PROFESSIONAL ENGINEERING PUBLISHING LTD. - 0954-4070. ; 214:D5, s. 561-568
  • Tidskriftsartikel (refereegranskat)abstract
    • Three sets of brake pads were subjected to a series of squeal tests. The pad area in contact with the brake disc was successively reduced down to 50 per cent of the original by removal of friction material either at the leading and trailing edges, at the
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  • Eriksson, M, et al. (författare)
  • A study of the influence of humidity on the friction and squeal generation of automotive brake pads
  • 2001
  • Ingår i: PROCEEDINGS OF THE INSTITUTION OF MECHANICAL ENGINEERS PART D-JOURNAL OF AUTOMOBILE ENGINEERING. - : PROFESSIONAL ENGINEERING PUBLISHING LTD. - 0954-4070. ; 215:D3, s. 329-342
  • Tidskriftsartikel (refereegranskat)abstract
    • In order to clarify the influence of humidity on the coefficient of friction and brake squeal generation, a series of brake rig tests has been performed. The influence of both air humidity and pad humidity was evaluated. The results show that, between 20
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  • Resultat 1-10 av 33

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