0000000000931862

AUTHOR

Carlo Poggiani

showing 2 related works from this author

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

MaleReceptors Cell Surface/geneticsAutismChild Development Disorders Pervasive/geneticsGene ExpressionGenome-wide association studyMedical and Health SciencesTripartite Motif ProteinsRisk FactorsReceptors2.1 Biological and endogenous factorsProtein IsoformsNerve Tissue Proteins/geneticsCopy-number variationAetiologyChildGenetics (clinical)Sequence DeletionPediatricGenetics & HeredityGeneticseducation.field_of_studySingle NucleotideArticlesGeneral MedicineExonsBiological SciencesMental HealthPhenotypeAutism spectrum disorderOrgan SpecificityCerebellar cortexChild PreschoolCell SurfaceSpeech delayFemalemedicine.symptomTranscription Initiation SiteAttention Deficit Disorder with Hyperactivity/geneticsChromosomes Human Pair 9HumanPair 9AdultPediatric Research InitiativeChild Development DisordersAdolescentDNA Copy Number VariationsIntellectual and Developmental Disabilities (IDD)Ubiquitin-Protein LigasesPopulationTranscription Factors/geneticsNerve Tissue ProteinsReceptors Cell SurfaceBiologyPolymorphism Single NucleotideChromosomesYoung AdultClinical ResearchProtein Isoforms/geneticsBehavioral and Social ScienceGeneticsmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to DiseasePolymorphismPreschooleducationMolecular BiologyGenetic Association StudiesPervasiveGlycoproteinsHuman GenomeNeurosciencesInfant NewbornGlycoproteins/geneticsInfantNewbornmedicine.diseaseBrain DisordersAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveCase-Control StudiesAutismTranscription Factors
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Association of maternal hypertension and chorioamnionitis with preterm outcomes

2014

OBJECTIVES: We compared the relative effect of hypertensive disorders of pregnancy and chorioamnionitis on adverse neonatal outcomes in very preterm neonates, and studied whether gestational age (GA) modulates these effects. METHODS: A cohort of neonates 23 to 30 weeks' GA, born in 2008 to 2011 in 82 hospitals adhering to the Italian Neonatal Network, was analyzed. Infants born from mothers who had hypertensive disorders (N = 2096) were compared with those born after chorioamnionitis (N = 1510). Statistical analysis employed logistic models, adjusting for GA, hospital, and potential confounders. RESULTS: Overall mortality was higher after hypertension than after chorioamnionitis (odds rati…

MalePediatricsLogistic models; Mortality; Outcomes; Pregnancy complications; Preterm infants; Risks; Female; Gestational Age; Humans; Infant Newborn; Infant Premature Diseases; Male; Pregnancy; Pregnancy Outcome; Prospective Studies; Chorioamnionitis; Hypertension Pregnancy-Induced; Pediatrics Perinatology and Child Health; Medicine (all); Arts and Humanities (miscellaneous)DiseasesInfant Premature DiseasesChorioamnionitisoutcomesPediatricsPregnancyRisksMaternal hypertensionProspective StudiesriskObstetricspregnancy complicationsMedicine (all)Pregnancy OutcomeGestational ageRetinopathy of prematurityPerinatology and Child HealthChorioamnionitisSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICALogistic models Mortality Outcomes Pregnancy complications Preterm infants RisksNecrotizing enterocolitisHypertensionoutcomeFemaleHumanmedicine.medical_specialtyGestational AgeOutcomesPregnancy-Inducedpreterm infantPregnancy complicationArts and Humanities (miscellaneous)medicineLogistic models; Mortality; Outcomes; Pregnancy complications; Preterm infants; Risks; Female; Gestational Age; Humans; Infant Newborn; Infant Premature Diseases; Male; Pregnancy; Pregnancy Outcome; Prospective Studies; Chorioamnionitis; Hypertension Pregnancy-Induced; Pediatrics Perinatology and Child HealthHumanspreterm infantsMortalityPrematurelogistic modelPregnancyChorioamnionitibusiness.industryInfant NewbornPreterm infantsInfantInfant Premature DiseaseOdds ratioHypertension Pregnancy-Inducedmedicine.diseaseNewbornmortalityLogistic modelsProspective StudiePregnancy complicationsBronchopulmonary dysplasiaPediatrics Perinatology and Child Healthbusinesslogistic modelsrisks
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