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Sökning: WFRF:(Tricarico R.)

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  • Thompson, B.A., et al. (författare)
  • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
  • 2014
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
  • Tidskriftsartikel (refereegranskat)abstract
    • The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
  • Tricarico, L., et al. (författare)
  • Discrete spot laser hardening and remelting with a high-brilliance source for surface structuring of a hypereutectoid steel
  • 2017
  • Ingår i: Materials & design. - 0264-1275 .- 1873-4197. ; 115, s. 194-202
  • Tidskriftsartikel (refereegranskat)abstract
    • In this work the single-pulse laser irradiation of a hypereutectoid steel was investigated using a fiber laser source, in a range of process parameters enabling surface hardening and remelting. Effects of laser power, pulse energy and defocusing distance were investigated using a numerical/experimental approach. Laser surface treatments were conducted on uncoated samples without any gas shielding, changing both the laser power and the pulse energy, and exploring a wide range of defocusing distances. Numerical simulations were conducted using a finite element model calibrated by means of an optimization procedure based on a specific calculation algorithm and using a subset of experimental data producing surface melting. Using both simulations and experiments, the process operating windows of the discrete spot laser treatment were determined: it was found that, when varying the laser power between 250 W and 750 W, melt-free hardened zones are produced with a maximum extension between 0.7 mm and 1.0 mm; on the contrary, in case of more tightly beam focusing conditions, surface melting occurred with a size of the re-melted areas ranging between 1.0 mm and 1.4 mm. Results further showed that a small change (generally 2–3 mm) of the defocusing distance suddenly brings the material from melting to a non-hardening condition. © 2016 Elsevier Ltd
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