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
2013
Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency
Hoang D, Sue GR, Xu F, Li P, Narayan D. Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency. BMJ Case Reports 2013, 2013: bcr2013008684. PMID: 23440991, PMCID: PMC3604111, DOI: 10.1136/bcr-2013-008684.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAneuploidyCell Transformation, NeoplasticChromosomal InstabilityChromosome DeletionChromosome SegregationChromosomes, Human, Pair 2DNA, NeoplasmFollow-Up StudiesGastrointestinal NeoplasmsHumansMaleMiddle AgedMutationProtein Serine-Threonine KinasesReal-Time Polymerase Chain Reaction