2019
Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
Chai H, Grommisch B, DiAdamo A, Wen J, Hui P, Li P. Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion. Molecular Genetics & Genomic Medicine 2019, 7: e00965. PMID: 31478360, PMCID: PMC6785443, DOI: 10.1002/mgg3.965.Peer-Reviewed Original Research
2006
Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement
Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. American Journal Of Medical Genetics Part A 2006, 140A: 2721-2729. PMID: 17103440, DOI: 10.1002/ajmg.a.31498.Peer-Reviewed Original ResearchAbnormalities, MultipleBase SequenceChild, PreschoolChromosome DeletionChromosomes, Human, Pair 11Cleft PalateCraniofacial AbnormalitiesDNA PrimersExudates and TransudatesFemaleFingersFrizzled ReceptorsHumansKaryotypingModels, GeneticPhenotypeReceptors, G-Protein-CoupledRetinal DiseasesToesVitreous Body