2010
The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SL, Barta C, Kungulilo S, Karoma NJ, Lu RB, Zhukova OV, Kim JJ, Comas D, Siniscalco M, New M, Li P, Li H, Manolopoulos VG, Speed WC, Rajeevan H, Pakstis AJ, Kidd JR, Kidd KK. The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. American Journal Of Human Genetics 2010, 86: 161-171. PMID: 20116045, PMCID: PMC2820164, DOI: 10.1016/j.ajhg.2010.01.007.Peer-Reviewed Original Research
2003
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.Peer-Reviewed Original ResearchConceptsChromosome 6Transcription factor FOXC1Nervous system developmentCentral nervous system developmentRing chromosome 6Microsatellite genotypingDevelopmental defectsOphthalmologic abnormalitiesRing 6Central nervous system examinationPhenotype comparisonsSegmental deletionsGenotype-phenotype correlationTerminal regionGene deletionNervous system examinationMixed hearing lossMolecular definitionSitu hybridizationDeletionFusion pointGenesAbnormal physical featuresCerebral dysgenesisFOXC1 gene