2024
Genetic Databases and Online Ring Chromosome Registry
Hu Q, Ma D, Li P, Liehr T. Genetic Databases and Online Ring Chromosome Registry. 2024, 31-42. DOI: 10.1007/978-3-031-47530-6_3.Peer-Reviewed Original ResearchDatabase of Genomic VariantsRing chromosomesClinical Genome Resource (ClinGenDatabase of Chromosomal ImbalanceAtlas of GeneticsOnline Mendelian InheritanceGenome browserPatient advocate organizationsGenomic variantsEnsembl ResourcesClinical cytogeneticsGenomic technologiesSupernumerary markerChromosomal imbalancesMendelian inheritanceDiagnostic geneticsGenetic databasesChromosome databaseChromosomeGenetic testingGeneticsCytogeneticsDisease RegistryClinical findingsWeb resourcesHistorical Perspective of Human Ring Chromosomes
Li P, Liehr T. Historical Perspective of Human Ring Chromosomes. 2024, 3-15. DOI: 10.1007/978-3-031-47530-6_1.Peer-Reviewed Original ResearchRing chromosomesCytogenomic analysisChromosomal structural abnormalitiesPatient advocate organizationsRisk of infertilityGenomic rearrangementsKaryotype evolutionChromosome-specificRelated phenotypesRC formationChromosome casesAffected patientsChromosomeClinical managementMolecular mechanismsRare typeStructural abnormalitiesLaboratory diagnosisClinical heterogeneityDynamic mosaicGenetic counselingMitotic behaviorSystematic evidence reviewOnline registryEvidence-based treatments
2018
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
Hu Q, Chai H, Shu W, Li P. Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Molecular Cytogenetics 2018, 11: 19. PMID: 29492108, PMCID: PMC5828142, DOI: 10.1186/s13039-018-0367-3.Peer-Reviewed Original ResearchRing chromosomesRing chromosome XRing chromosome syndromesRing chromosome formationGenomic copy numberChromosome therapyChromosome structureChromosome formationAutosomal ringsCytogenomic diagnosisRing chromosome 4Chromosome 4Chromosome 5Cell cycleChromosomesChromosome XChromosome 14Chromosome 16Dynamic mosaicismGenotype-phenotype correlationChromosome 18Copy numberSequencing analysisGenomic imbalancesRing chromosome 13
2015
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
Wang Q, Wu W, Xu Z, Luo F, Zhou Q, Li P, Xie J. Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature. Molecular Cytogenetics 2015, 8: 97. PMID: 26697114, PMCID: PMC4687147, DOI: 10.1186/s13039-015-0198-4.Peer-Reviewed Original ResearchMethylation patternsCopy number changesLow-copy repeatsNumber changesChromosome 15Further gene expressionRing chromosomesSmall ring chromosomeGenomic structureEpigenetic patternsComparative genomic hybridization analysisPhenotypic consequencesGene expressionMb regionGenomic hybridization analysisChromosomesIntrachromosomal deletionsHybridization analysisMb segmentArray comparative genomic hybridization analysisMethylation-specific multiplex ligation-dependent probe amplificationCopy repeatsMS-MLPA analysisSitu hybridizationPhenotype correlation