0000000001064843

AUTHOR

G Bossi

showing 2 related works from this author

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Precision electroweak measurements on the Z resonance

2005

We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLD experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, $\MZ$ and $\GZ$, and its couplings to fermions, for example the $\rho$ parameter and the effective electroweak mixing angle, are precisely measured. The number of light neutrino species is determined to be 2.9840…

Top quarkFORWARD-BACKWARD ASYMMETRYPARTICLE PHYSICS; LARGE ELECTRON POSITRON COLLIDER; ALEPH; DELPHI; L3; OPALGeneral Physics and Astronomy01 natural sciences7. Clean energyHigh Energy Physics - ExperimentSettore FIS/04 - Fisica Nucleare e SubnucleareHigh Energy Physics - Experiment (hep-ex)High Energy Physics - Phenomenology (hep-ph)electron-positron physics[PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex]Electroweak interactionPhysicsQuantum chromodynamicsOPALElectron–positron physics; Electroweak interactions; Decays of heavy intermediate gauge bosons; Fermion–antifermion production; Precision measurements at the Z resonance; Tests of the Standard Model; Radiative corrections; Effective coupling constants; Neutral weak current; Z boson; W boson; Top quark; Higgs bosonParticle physics - ExperimentPhysicsSettore FIS/01 - Fisica SperimentaleElectroweak interactionFORWARD-BACKWARD ASYMMETRY; FERMION-PAIR PRODUCTION; HADRONIC-Z-DECAYS; TOP-QUARK MASS; ANGLE BHABHA SCATTERING; W-BOSON MASS; CROSS-SECTION ASYMMETRY; Z-LINE-SHAPE; SEMILEPTONIC BRANCHING RATIOS; CARLO EVENT GENERATORdecays of heavy intermediate gauge bosons; effective coupling constants; electron-positron physics; electroweak interactions; fermion-antifermion production; higgs boson; neutral weak current; precision measurements at the z resonance; radiative corrections; tests of the standard model; top quark; w boson; z bosonRadiative correctionsALEPHLARGE ELECTRON POSITRON COLLIDERRadiative correctionHigh Energy Physics - PhenomenologyFIS/01 - FISICA SPERIMENTALEDecays of heavy intermediate gauge bosonsL3Z-LINE-SHAPEHiggs bosonFERMION-PAIR PRODUCTIONPARTICLE PHYSICSFísica nuclearNeutrinoFermion–antifermion productionPrecision measurements at the Z resonanceTests of the Standard ModelParticle physicsZ bosonfermion-antifermion productionElectroweak interactionsHiggs bosonFOS: Physical sciencesddc:500.2Elementary particle physics ; z boson ; LEP ; electroweakDecays of heavy intermediate gauge bosonEffective coupling constantPartícules (Física nuclear)Standard ModelNeutral weak currentelectroweak theory Z boson DELPHI ALEPH OPAL L30103 physical sciencesANGLE BHABHA SCATTERINGCROSS-SECTION ASYMMETRYSEMILEPTONIC BRANCHING RATIOS010306 general physicsTOP-QUARK MASSEffective coupling constantsDELPHICoupling constantElectron–positron physics010308 nuclear & particles physicsHigh Energy Physics::PhenomenologyFermionCARLO EVENT GENERATORTop quarkW-BOSON MASSFORWARD-BACKWARD ASYMMETRY FERMION-PAIR PRODUCTION HADRONIC-Z-DECAYS TOP-QUARK MASS ANGLE BHABHA SCATTERING W-BOSON MASS CROSS-SECTION ASYMMETRY Z-LINE-SHAPE SEMILEPTONIC BRANCHING RATIOS CARLO EVENT GENERATOR[PHYS.HPHE]Physics [physics]/High Energy Physics - Phenomenology [hep-ph]Experimental High Energy PhysicsElectron–positron physicW bosonHigh Energy Physics::ExperimentFIS/04 - FISICA NUCLEARE E SUBNUCLEAREHADRONIC-Z-DECAYSPHYSICS REPORTS-REVIEW SECTION OF PHYSICS LETTERS
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