0000000000210573

AUTHOR

Christina Fagerberg

showing 2 related works from this author

International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by …

2012

Background There are a limited number of publications on the management of gynecologic/obstetric events in female patients with hereditary angioedema caused by C1 inhibitor deficiency (HAE-C1-INH). Objective We sought to elaborate guidelines for optimizing the management of gynecologic/obstetric events in female patients with HAE-C1-INH. Methods A roundtable discussion took place at the 6th C1 Inhibitor Deficiency Workshop (May 2009, Budapest, Hungary). A review of related literature in English was performed. Results Contraception : Estrogens should be avoided. Barrier methods, intrauterine devices, and progestins can be used. Pregnancy : Attenuated androgens are contraindicated and should …

Complement C1 Inactivator ProteinsAbortionCardiovascularEcallantidechemistry.chemical_compoundDelivery Obstetric; Complement C1 Inactivator Proteins; Humans; Infant Newborn; Breast Neoplasms; Genetic Counseling; Pregnancy; Lactation; Genital Diseases Female; Infant; Contraception; Hereditary Angioedema Types I and II; Menstruation; Pregnancy Complications Cardiovascular; Chemoprevention; Prenatal Diagnosis; Menopause; FemalePregnancyIcatibantPrenatal DiagnosisImmunology and AllergyfertilityHereditary Angioedema Types I and IItreatmentObstetricsVaginal deliveryMenstruationContraceptioncontraceptionGenital DiseasesHereditary angioedemaFemalepregnancyMenopausedeliverymedicine.symptomComplement C1 Inhibitor ProteinDeliverymedicine.drugmedicine.medical_specialtyPregnancy Complications CardiovascularImmunologyBreast NeoplasmsGenetic CounselingIntrauterine deviceChemopreventionbreast cancermedicineHumansLactationGynecologyPregnancygenetic counselingAngioedemabusiness.industryangioedemaInfant NewbornInfantObstetricDelivery ObstetricNewbornmedicine.diseasehereditary angioedemaPregnancy ComplicationsSettore MED/16 - ReumatologiachemistryC1 inhibitor deficiencybusinessGenital Diseases FemaleJournal of Allergy and Clinical Immunology
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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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