5 research outputs found

    Measurement of the WZ production cross section in pp collisions at root s=13 Tev

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    Of mice and men: molecular genetics of congenital heart disease

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    Suppression and azimuthal anisotropy of prompt and nonprompt J/psi production in PbPb collisions at root S-NN=2.76 TeV

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    The nuclear modification factor RAA and the azimuthal anisotropy coefficient v2 of prompt and nonprompt (i.e. those from decays of b hadrons) J/ψ mesons, measured from PbPb and pp collisions at sNN−−−√=2.76 TeV at the LHC, are reported. The results are presented in several event centrality intervals and several kinematic regions, for transverse momenta pT>6.5 GeV/c and rapidity |y|<2.4 , extending down to pT=3 GeV/c in the 1.6<|y|<2.4 range. The v2 of prompt J/ψ is found to be nonzero, but with no strong dependence on centrality, rapidity, or pT over the full kinematic range studied. The measured v2 of nonprompt J/ψ is consistent with zero. The RAA of prompt J/ψ exhibits a suppression that increases from peripheral to central collisions but does not vary strongly as a function of either y or pT in the fiducial range. The nonprompt J/ψ RAA shows a suppression which becomes stronger as rapidity or pT increases. The v2 and RAA of open and hidden charm, and of open charm and beauty, are compared

    The phenotype of recurrent 10q22q23 deletions and duplications

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    The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have unique breakpoints. Most of the individuals with the LCR3–4 deletion had developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia were observed. For congenital breast aplasia, the NRG3 gene, known to be involved in early mammary gland development in mice, is a putative candidate gene. For cardiac defects, BMPR1A and GRID1 are putative candidate genes because of their association with cardiac structure and function. Duplications between LCRs3 and 4 are associated with variable phenotypic penetrance. Probands had speech and/or motor delays and dysmorphisms including a broad forehead, deep-set eyes, upslanting palpebral fissures, a smooth philtrum and a thin upper lip. In conclusion, duplications between LCRs3 and 4 on 10q22.3q23.2 may lead to a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members of a proband. Reciprocal deletions lead to speech and language delay, mild facial dysmorphisms and, in some individuals, to cerebellar, breast developmental and cardiac defects

    Measurement of the t(t)over-bar production cross section using events in the e mu final state in pp collisions at root s=13 TeV

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