2008
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)
Jiang Y, Martinez JE, Ou Z, Cooper ML, Kang S, Pursley A, Cheung SW. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23). American Journal Of Medical Genetics Part A 2008, 146A: 1986-1993. PMID: 18627051, DOI: 10.1002/ajmg.a.32408.Peer-Reviewed Original ResearchAbnormalities, MultipleChild, PreschoolChromosome BreakageChromosome DeletionChromosome InversionChromosomes, Artificial, BacterialChromosomes, Human, Pair 14Developmental DisabilitiesFemaleGenome, HumanHumansIn Situ Hybridization, FluorescenceKaryotypingMuscle HypotoniaOligonucleotide Array Sequence AnalysisPhenotype
1999
Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome
Tsai T, Jiang Y, Bressler J, Armstrong D, Beaudet A. Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome. Human Molecular Genetics 1999, 8: 1357-1364. PMID: 10400982, DOI: 10.1093/hmg/8.8.1357.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsAutoantigensBrainChromosome DeletionFemaleGene ExpressionGenomic ImprintingHumansLigasesMaleMiceMice, Inbred StrainsMuscle HypotoniaMutagenesis, Site-DirectedOpen Reading FramesPedigreePhenotypePrader-Willi SyndromeRibonucleoproteins, Small NuclearRNASnRNP Core ProteinsUbiquitin-Protein LigasesConceptsOpen reading framePartial lethalityExon 2Pathogenesis of PWSUpstream open reading framesObvious phenotypic abnormalitiesMouse chromosome 7CGenomic imprintsImprinted expressionPrader-Willi syndromeHuman translocationImprinted genesGene ContributingStructural genePaternal deficiencyChromosome 7CPaternal chromosomesGenotype/phenotype correlationHuman chromosomesMethylation patternsImprinting mutationsReading frameMultiple genesLoss of expressionSNRPN