0000000000373346

AUTHOR

Elisabeth Widén

showing 2 related works from this author

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collabora…

2018

PubMed: 30270054

International CooperationMÉTODOS EPIDEMIOLÓGICOS030204 cardiovascular system & hematologyNationwide surveyGlobal HealthHealth Services AccessibilityDoenças Cardio e Cérebro-vascularesMOLECULAR-GENETICS0302 clinical medicineRisk FactorsPrevalenceCARDIOVASCULAR RISK-FACTORS030212 general & internal medicineCooperative BehaviorDEFECTIVE APOLIPOPROTEIN B-100GENERAL-POPULATIONeducation.field_of_studymedicine.diagnostic_testAnticholesteremic AgentsFamilial hypercholesterolaemia; FHSC; Primary dyslipidaemia; Anticholesteremic Agents; Biomarkers; Cholesterol LDL; Cooperative Behavior; Genetic Predisposition to Disease; Health Care Surveys; Health Services Accessibility; Healthcare Disparities; Humans; Hyperlipoproteinemia Type II; Phenotype; Predictive Value of Tests; Prevalence; Risk Factors; Treatment Outcome; Blood Component Removal; Global Health; International CooperationEAS Familial Hypercholesterolaemia Studies Collaboration3. Good healthPREVALENCECholesterolPhenotypeTreatment OutcomeBlood Component RemovalCORONARY-ARTERY-DISEASENATIONWIDE SURVEYCardiology and Cardiovascular MedicineFamilial hypercholesterolaemiamedicine.medical_specialtyCardiovascular risk factorsPopulationLDL-RECEPTOR1102 Cardiovascular Medicine And HaematologyLDLHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsmedicineHumans:Medicine [Science]Genetic Predisposition to DiseasePrimary dyslipidaemiaHealthcare Disparitiesfhsc; familial hypercholesterolaemia; primary dyslipidaemiaeducationGenetic testingGovernmentPublic healthEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) InvestigatorsSAFEHEART REGISTRY1103 Clinical SciencesFHSCCholesterol LDLCardiovascular System & HematologyFamily medicineHealth Care Surveys3121 General medicine internal medicine and other clinical medicineCardiovascular System & CardiologyBusinessFOLLOW-UPBiomarkers
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A dominant gene for developmental dyslexia on chromosome 3.

2001

Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a m…

AdultMaleReading disabilityAdolescentLocus (genetics)Biologybehavioral disciplines and activitiesDyslexia03 medical and health sciences0302 clinical medicineGenetic linkageDCDC2Memorymental disordersGeneticsmedicineHumansChildGenetics (clinical)Finland030304 developmental biologyAgedGenes DominantGenetics0303 health sciencesAnalysis of VariancePsychological TestsRadiation Hybrid MappingReceptors Dopamine D2HaplotypeDyslexiaReceptors Dopamine D3Chromosome MappingOriginal ArticlesMiddle Agedmedicine.diseasePedigreeDevelopmental disorderChromosome 3HaplotypesReadingReceptors SerotoninFemaleChromosomes Human Pair 3Lod Score030217 neurology & neurosurgeryJournal of medical genetics
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