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Sökning: WFRF:(Caumes R.)

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  • Ravasio, A, et al. (författare)
  • Single-Shot Diffractive Imaging with a Table-Top Femtosecond Soft X-Ray Laser-Harmonics Source
  • 2009
  • Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 103:2, s. 028104-
  • Tidskriftsartikel (refereegranskat)abstract
    • Coherent x-ray diffractive imaging is a powerful method for studies on   nonperiodic structures on the nanoscale. Access to femtosecond dynamics   in major physical, chemical, and biological processes requires   single-shot diffraction data. Up to now, this has been limited to   intense coherent pulses from a free electron laser. Here we show that   laser-driven ultrashort x-ray sources offer a comparatively inexpensive  alternative. We present measurements of single-shot diffraction patterns from isolated nano-objects with a single 20 fs pulse from a   table-top high-harmonic x-ray laser. Images were reconstructed with a   resolution of 119 nm from the single shot and 62 nm from multiple shots.
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  • Smol, T., et al. (författare)
  • MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
  • 2018
  • Ingår i: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
  • Tidskriftsartikel (refereegranskat)abstract
    • Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
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  • Resultat 1-12 av 12

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