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Sökning: WFRF:(Hitti J.)

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  • Panneman, Daan M., et al. (författare)
  • Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
  • 2023
  • Ingår i: Frontiers in Cell and Developmental Biology. - : Frontiers Media SA. - 2296-634X. ; 11
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.
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3.
  • Hartmann, Ola, et al. (författare)
  • Muon Diffusion in Nb-H Systems
  • 1986
  • Ingår i: Hyperfine Interactions. ; 31, s. 241-245
  • Tidskriftsartikel (refereegranskat)
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4.
  • Forslund, Ola Kenji, et al. (författare)
  • Revisiting the A-type antiferromagnet NaNiO2 with muon spin rotation measurements and density functional theory calculations
  • 2020
  • Ingår i: Physical Review B. - : American Physical Society. - 2469-9950 .- 2469-9969. ; 102:18
  • Tidskriftsartikel (refereegranskat)abstract
    • An A-type antiferromagnet, NaNiO2, was examined by means of positive muon spin rotation and relaxation (mu+SR) measurements and first-principles calculations based on a density functional theory (DFT). Below T-N = 20 K, a clear muon spin precession signal was observed in the mu+SR time spectrum recorded under zero field, due to the formation of a static internal magnetic field. The microscopic origin of such an internal field was computed as a sum of dipolar and hyperfine contact fields at the site (0.624, 0, 0.854), where both the muon site and the local spin density at such a site were predicted with DFT calculations. While the computed values were consistent with experimentally obtained ones, in both the antiferromagnetic and the paramagnetic states, the contribution of the hyperfine contact field was shown to be insignificant even below T-N. Finally, measurements at higher temperatures signified thermally activated Na-ion diffusion with E-a = 50(20) meV and D-Na(300K) = 8.8 x 10(-11) cm(2)/s, commonly observed in layered-type compounds.
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