288 research outputs found

    Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

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    Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways

    Study of hadronic event-shape variables in multijet final states in pp collisions at √s=7 TeV

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    Peer reviewe

    Searches for electroweak production of charginos, neutralinos, and sleptons decaying to leptons and W, Z, and Higgs bosons in pp collisions at 8 TeV

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    Peer reviewe

    Measurement of prompt J/ψ pair production in pp collisions at √s = 7 Tev

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    Constraints on parton distribution functions and extraction of the strong coupling constant from the inclusive jet cross section in pp collisions at √s=7 TeV

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    Measurement of Trilinear Gauge Couplings in e+ee^+ e^- Collisions at 161 GeV and 172 GeV

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    Trilinear gauge boson couplings are measured using data taken by DELPHI at 161~GeV and 172~GeV. Values for WWVWWV couplings (V=Z,γV=Z, \gamma) are determined from a study of the reactions \eeWW\ and \eeWev, using differential distributions from the WWWW final state in which one WW decays hadronically and the other leptonically, and total cross-section data from other channels. Limits are also derived on neutral ZVγZV\gamma couplings from an analysis of the reaction \eegi
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