2022
7 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. 7 The Genetics of Disorders Affecting the Premature Newborn. 2022, 149-185. DOI: 10.1016/b978-0-12-815236-2.00006-0.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaPreterm infantsDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteins
2016
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Truong DT, Shriberg LD, Smith SD, Chapman KL, Scheer-Cohen AR, DeMille MM, Adams AK, Nato AQ, Wijsman EM, Eicher JD, Gruen JR. Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. Human Genetics 2016, 135: 1329-1341. PMID: 27535846, PMCID: PMC5065602, DOI: 10.1007/s00439-016-1717-z.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 13Drosophila ProteinsDyslexiaFemaleGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLanguage DisordersLod ScoreMaleMembrane ProteinsMiddle AgedNuclear ProteinsPedigreeQuantitative Trait LociReadingSpeech DisordersWritingConceptsNonword repetitionSpecific language impairmentCognitive processesLanguage impairmentAuditory processingVerbal developmentMotor planningPerson's abilityRobust endophenotypesMultigenerational familiesLanguage traitsRepetitionDisordersGenome-wide linkage scanSpellingVariance component linkage analysisCausal genetic factorsMultipoint variance component linkage analysisMemoryEndophenotypesSpeechChromosome 13qFuture studiesPresent studyDeficits
2014
The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. The Genetics of Disorders Affecting the Premature Newborn. 2014 DOI: 10.1016/b978-0-12-801238-3.05514-8.Peer-Reviewed Original ResearchPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityBronchopulmonary dysplasiaIntraventricular hemorrhageNecrotizing enterocolitisDistress syndromeDuctus arteriosusPremature newbornsCommon disorderGenetics of disordersGenetic etiologyDisordersEnterocolitisArteriosusPrematurityHemorrhageRetinopathyNewbornsDysplasiaInfantsSyndromeEtiology
2013
Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language
Eicher JD, Powers NR, Cho K, Miller LL, Mueller KL, Ring SM, Tomblin JB, Gruen JR. Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language. PLOS ONE 2013, 8: e63762. PMID: 23691092, PMCID: PMC3655151, DOI: 10.1371/journal.pone.0063762.Peer-Reviewed Original ResearchConceptsPrenatal nicotine exposureANKK1/DRD2Nicotine exposureNicotine dependenceDose-response fashionAvon Longitudinal StudyCase-control cohortAssociation of markersPrenatal environmental factorsPrenatal nicotineLanguage impairmentLanguage tasksNeurobehavioral disordersEtiological determinantsNeural circuitsUtero developmentLongitudinal studyDRD2Communication disordersRiskRelated pathwaysAssociationExposureDisordersANKK1Chapter 41 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. Chapter 41 The Genetics of Disorders Affecting the Premature Newborn. 2013, 1-22. DOI: 10.1016/b978-0-12-383834-6.00171-3.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisPreterm infantsDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteins
2001
Human GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrain