Search results for " Inherited"

showing 10 items of 55 documents

Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER

2010

Abstract Abstract 665 Introduction Prophylaxis is considered a difficult endeavour in FVII deficiency, especially because of the very short FVII zymogen and FVIIa half-lives, mainly in childhood. The Seven Treatment Evaluation Registry (STER, www.targetseven.org) is a prospective observational, multi-centre, web-based registry concerned with the evaluation of treatments for spontaneous bleeding episodes, surgery and prophylaxis in patients with FVII deficiency. As regards prophylaxis, STER provides the frame for a structured and detailed data capture aiming at: a) identifying patients in whom prophylaxis is advisable, b) defining clinical settings in which prophylaxis is necessary and c) de…

Gastrointestinal bleedingPediatricsmedicine.medical_specialtybusiness.industryImmunologyCell BiologyHematologyHemarthrosismedicine.diseaseBiochemistryRegimenConcomitantSeverity of illnessmedicineProphylaxis in Factor VII deficiency inherited Factor VII deficiencyObservational studyDosingFresh frozen plasmabusinessBlood
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Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics stud…

2008

Contains fulltext : 71374.pdf (Publisher’s version ) (Closed access) Attention-deficit/hyperactivity disorder (ADHD) is typically characterized by inattention, excessive motor activity, impulsivity, and distractibility. Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxiety disorder, depression, substance abuse, and pervasive developmental disorder (PDD). Family studies suggest that ADHD + CD represents a specific subtype of the ADHD disorder with familial risk factors only partly overlapping with t…

Genetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinPoison controlComorbidityNeuroinformatics [DCN 3]Linkage DisequilibriumCohort Studies2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)Oligonucleotide Array Sequence Analysis0303 health sciencesAntisocial Personality Disorder10058 Department of Child and Adolescent Psychiatry3. Good healthPedigreeEuropePsychiatry and Mental healthConduct disorderAttention Deficit and Disruptive Behavior DisordersADHD -- conduct disorder -- genome wide association study -- genetic association information networkmedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]Anxiety disorderAlgorithmsClinical psychologyConduct DisorderGenetic Markers2716 Genetics (clinical)Quantitative Trait LociContext (language use)610 Medicine & healthChild Behavior DisordersImpulsivityPolymorphism Single NucleotideMental health [NCEBP 9]behavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicinePervasive developmental disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und Jugendalters030304 developmental biologyPsychiatric Status Rating ScalesGenome HumanAntisocial personality disordermedicine.diseaseComorbidityGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryGenome-Wide Association Study
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Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

2008

Contains fulltext : 69243.pdf (Publisher’s version ) (Closed access) Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies, there has been limited replications between the various independent datasets. The current study gathered the results from all seven of the ADHD linkage scans and performed a Genome Scan Meta Analysis (GSMA) to identify the genomic region with most consistent linkage evidence across the studies. Genome-wide significant linkage (P(S…

Genetics and epigenetic pathways of disease [NCMLS 6]Genetic LinkageEuropean Continental Ancestry GroupMedizinGenome ScanBiologyNeuroinformatics [DCN 3]Mental health [NCEBP 9]Genetic determinismWhite PeopleArticleChromosomesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineGene mappingCognitive neurosciences [UMCN 3.2]Genetic linkageGenetic predispositionmedicinePerception and Action [DCN 1]Attention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersGenetics (clinical)030304 developmental biologyProbabilityLinkage (software)Genetics0303 health sciencesGenomeGenome HumanPair 16Chromosome Mappingmedicine.diseasePsychiatry and Mental healthGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityMeta-analysisLod ScoreFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgeryChromosomes Human Pair 16HumanAmerican Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
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No association between two polymorphisms of the serotonin transporter gene and combined type attention deficit hyperactivity disorder.

2008

Contains fulltext : 71091.pdf (Publisher’s version ) (Closed access) Several independent studies have reported association between serotonin transporter gene (SLC6A4) polymorphisms and attention deficit hyperactivity disorder (ADHD). Five studies found evidence for association between the long-allele of a 44-bp insertion/deletion polymorphism (5-HTTLPR) and ADHD. Another two studies corroborated this finding while a further six studies did not find such an association. For a second polymorphism within the gene, a variable number tandem repeat (VNTR) within intron 2, one study demonstrated that the 12/12 genotype was significantly less frequent in ADHD cases compared to controls, while a sec…

Genetics and epigenetic pathways of disease [NCMLS 6]MedizinNeuroinformatics [DCN 3]0302 clinical medicinePolymorphism (computer science)GenotypePerception and Action [DCN 1]Childhealth care economics and organizationsSerotonin transporterGenetics (clinical)GeneticsSerotonin Plasma Membrane Transport Proteins0303 health sciencesDepression030305 genetics & heredityTransmission disequilibrium testhumanitiesVariable number tandem repeatPsychiatry and Mental healthChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescenteducationBiologybehavioral disciplines and activitiesMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Internal medicinemental disordersmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAssociation (psychology)Gene030304 developmental biologyFamily HealthPolymorphism Geneticbusiness.industryMood Disordersmedicine.diseaseMoodEndocrinologyMood disordersGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgery
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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Heart Defects CongenitalMalemedicine.medical_specialtyCandidate geneLimb Deformities CongenitalTracheoesophageal fistulaSingle-nucleotide polymorphismContext (language use)Chromosome DisordersEphrin-B2BiologyGastroenterologyAnus ImperforateMiceEsophagusInternal medicineGeneticsmedicineAnimalsHumansIn patientGenetics (clinical)Mice KnockoutChromosomes Human Pair 13Infant NewbornChromosomeAnatomymedicine.diseaseAnorectal MalformationsSpineTracheaDisease Models AnimalRadiusHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]AtresiaChild PreschoolMutationMutation testingFemaleChromosome DeletionGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]American Journal of Medical Genetics. Part A
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Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolong…

2014

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect -

HeredityPharmacokinetic inherited Factor VII deficiencyFactor VII DeficiencySocio-culturaleFactor VIIaPharmacologySeverity of Illness IndexPharmacokineticsPredictive Value of Testshemic and lymphatic diseasesHumansMedicineGenetic Predisposition to DiseaseFVII deficiencyRegistriescardiovascular diseasesBlood CoagulationVolume of distributionbiologyCoagulantsbusiness.industryVascular biologyrFVIIaHematologyFactor VIIRecombinant ProteinsPhenotypeTreatment OutcomerFVIIa; FVII deficiency; pharmacokineticsRecombinant factor VIIaPharmacodynamicsbiology.proteinBlood Coagulation TestsSteady state (chemistry)Drug Monitoringbusinesspharmacokinetics
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Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity.

2008

Contains fulltext : 69953.pdf (Publisher’s version ) (Closed access) Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10-repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region (3'UTR) of the dopamine transporter gene (DAT1). Yet, recent meta-analyses of available data find little or no evidence for this association; although there is strong evidence for heterogeneity between datasets. This pattern of findings could arise for several reasons including the presence of relatively rare risk alleles on common haplotype backgrounds or the functional interaction of two or more loci within the g…

Linkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Promoter Regions GeneticGenetics (clinical)Genetics0303 health sciences10058 Department of Child and Adolescent PsychiatryEuropeVariable number tandem repeatPsychiatry and Mental health/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAllelic heterogeneityFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthBiologyPolymorphism Single NucleotideMental health [NCEBP 9]White PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]Genetic Heterogeneity03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Humansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllele frequencyAlleles030304 developmental biologyDopamine Plasma Membrane Transport ProteinsGenetic heterogeneityHaplotypeGenetic VariationHaplotypesGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity5' Untranslated Regions030217 neurology & neurosurgeryMicrosatellite Repeats
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Dopamine and serotonin transporter genotypes moderate sensitivity to maternal expressed emotion: the case of conduct and emotional problems in attent…

2009

Contains fulltext : 80906.pdf (Publisher’s version ) (Closed access) BACKGROUND: Mothers' positive emotions expressed about their children with attention deficit/hyperactivity disorder (ADHD) are associated with a reduced likelihood of comorbid conduct problems (CP). We examined whether this association with CP, and one with emotional problems (EMO), is moderated by variants within three genes, previously reported to be associated with ADHD and to moderate the impact of environmental risks on conduct and/or emotional problems; the dopamine transporter gene (SLC6A3/DAT1), the dopamine D4 receptor gene (DRD4) and the serotonin transporter gene (SLC6A4/5HTT). METHODS: Seven hundred and twenty-…

Male110 012 Social cognition of verbal communicationGenetics and epigenetic pathways of disease [NCMLS 6]MedizinDopamine transportDevelopmental psychology2738 Psychiatry and Mental Health0302 clinical medicineDevelopmental and Educational PsychologyPerception and Action [DCN 1]Emotional expressionGene–environment interactionChildSerotonin transporterSerotonin Plasma Membrane Transport Proteinsbiology05 social sciences10058 Department of Child and Adolescent PsychiatryMother-Child Relations3. Good healthPsychiatry and Mental healthExpressed EmotionConduct disorderChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalePsychologyFunctional Neurogenomics [DCN 2]050104 developmental & child psychologyAdolescentGenotype610 Medicine & healthChild Behavior DisordersMental health [NCEBP 9]150 000 MR Techniques in Brain FunctionGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesSDG 3 - Good Health and Well-beingmental disordersmedicineAttention deficit hyperactivity disorderExpressed emotionHumans0501 psychology and cognitive sciences2735 Pediatrics Perinatology and Child Healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersDopamine transporter3204 Developmental and Educational PsychologyDopamine Plasma Membrane Transport ProteinsReceptors Dopamine D4medicine.diseaseAttention Deficit Disorder with HyperactivityPediatrics Perinatology and Child Healthbiology.protein030217 neurology & neurosurgery
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Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings.

2008

Contains fulltext : 69485.pdf (Publisher’s version ) (Closed access) BACKGROUND: Limited success has been achieved through previous attention-deficit/hyperactivity disorder (ADHD) linkage scans, which were all designed to map genes underlying the dichotomous phenotype. The International Multi-centre ADHD Genetics (IMAGE) project performed a whole genome linkage scan specifically designed to map ADHD quantitative trait loci (QTL). METHODS: A set of 1094 single selected Caucasian ADHD nuclear families was genotyped on a highly accurate and informative single nucleotide polymorphism (SNP) panel. Two quantitative traits measuring the children's symptoms in home and school settings were collecte…

MaleAdolescentGenetics and epigenetic pathways of disease [NCMLS 6]Genetic LinkageMedizin610 Medicine & healthSingle-nucleotide polymorphismLocus (genetics)Quantitative trait locusNeuroinformatics [DCN 3]Social EnvironmentMental health [NCEBP 9]ArticleWhite PeopleDyslexiaGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciences0302 clinical medicineCognitive neurosciences [UMCN 3.2]Genetic linkagemental disordersmedicinePerception and Action [DCN 1]HumansAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersChildBiological PsychiatryGenetics0303 health sciencesSchools030305 genetics & heredityDyslexia10058 Department of Child and Adolescent PsychiatryHeritabilitymedicine.disease030227 psychiatryPhenotypeGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityChromosomes Human Pair 1Child PreschoolTraitFemalePsychology2803 Biological PsychiatryFunctional Neurogenomics [DCN 2]
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Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate…

2008

Contains fulltext : 70192.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a complex condition with environmental and genetic etiologies. Up to this point, research has identified genetic associations with candidate genes from known biological pathways. In order to identify novel ADHD susceptibility genes, 600,000 SNPs were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. We generated six quantitative phenotypes from 18 ADHD symptoms to be used in genome-wide association analyses. With the PBAT screening algorithm, we identified 2 SNPs, rs6565113 and rs5526…

MaleCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinGenome-wide association studyNeuroinformatics [DCN 3]Genome2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]Cluster AnalysisGenetics(clinical)Genetics (clinical)Genetics0303 health sciences10058 Department of Child and Adolescent PsychiatryCadherinsPedigreePsychiatry and Mental healthFemaleFunctional Neurogenomics [DCN 2]CDH13AlgorithmsGenetic Markers2716 Genetics (clinical)GenotypeQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single NucleotideMental health [NCEBP 9]Genetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]medicineADHDAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersGene030304 developmental biologyProbabilityModels GeneticGenome Humancandidate genefamily-based associationmedicine.diseaseIntronsHaplotypesGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitygenome-wide association030217 neurology & neurosurgeryGenome-Wide Association StudyAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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