1999
Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4)
Seaman M, Fisher J, Chang F, Kidd K. Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4). American Journal Of Medical Genetics 1999, 88: 705-709. PMID: 10581493, DOI: 10.1002/(sici)1096-8628(19991215)88:6<705::aid-ajmg22>3.0.co;2-f.Peer-Reviewed Original ResearchAllelesAnimalsCodon, InitiatorConsensus SequenceDatabases, FactualEvolution, MolecularGene FrequencyGenetic VariationGorilla gorillaHumansPan troglodytesPolymorphism, GeneticPongo pygmaeusReceptors, Dopamine D2Receptors, Dopamine D4Response ElementsSequence Homology, Nucleic AcidTandem Repeat SequencesTranscription Factors
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAlleles