2020
Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9
Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P. Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9. American Journal Of Medical Genetics Part A 2020, 182: 3023-3028. PMID: 32978894, DOI: 10.1002/ajmg.a.61890.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