1999
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
Pehlivan T, Pober B, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D, Watson M, Hing A. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal Of Medical Genetics 1999, 83: 201-206. PMID: 10096597, DOI: 10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v.Peer-Reviewed Original ResearchConceptsCardiac transcription factor genesZinc finger transcription factorHuman chromosome armsTranscription factor genesFinger transcription factorCardiac gene expressionChromosome armsTranscription factorsFactor genesGene expressionGATA4 geneInterstitial deletionGATA-4GenesLociFISH analysisSitu hybridizationDeletionHaploinsufficiencySubmicroscopic deletionRecent studiesPhenotype of patientsCellsMonosomyNormal karyotype
1992
Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse
McGrath J, Horwich A, Brueckner M. Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. Genomics 1992, 14: 643-648. PMID: 1427890, DOI: 10.1016/s0888-7543(05)80163-6.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChromosome DeletionChromosome MappingCloning, MolecularGenetic LinkageMiceMice, Mutant StrainsMultigene FamilySitus InversusConceptsDistal mouse chromosome 12Distal chromosome 12Mouse chromosome 12Deficiency mappingChromosome 12Trisomic progenyLeft-right body axisGenetic map locationDerivative chromosomesLeft-right asymmetryDuplication analysisTelomeric regionsMap locationChromosomal regionsGene complexChromosome 5Recessive mutationsBody axisGenetic linkageNormal copyProximal regionProgenyChromosomesMutationsReciprocal translocation