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
1997
Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase gene
Maddox L, Li P, Bennett A, Descartes M, Thompson J. Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase gene. IUBMB Life 1997, 43: 1163-1171. PMID: 9442913, DOI: 10.1080/15216549700205001.Peer-Reviewed Original Research