1998
Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
Vance G, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon‐Delvallez N, Butler M, Palmer C. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. American Journal Of Medical Genetics 1998, 76: 51-57. PMID: 9508065, PMCID: PMC6775641, DOI: 10.1002/(sici)1096-8628(19980226)76:1<51::aid-ajmg9>3.0.co;2-s.Peer-Reviewed Original ResearchMeSH KeywordsCell LineChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, Human, Pair 7CytogeneticsFemaleGenetic MarkersHedgehog ProteinsHoloprosencephalyHumansIn Situ Hybridization, FluorescenceInfantInfant, NewbornKaryotypingMaleMosaicismPolymerase Chain ReactionProteinsTrans-ActivatorsTranslocation, GeneticConceptsSonic hedgehog geneHedgehog geneCell linesDifferent chromosome regionsStructural rearrangementsHuman Sonic Hedgehog genePatient cell linesMolecular cytogenetic analysisChromosome regionsChromosome 7Embryonic forebrainLong armGenesSitu hybridizationPolymerase chain reaction amplificationHPE3Chain reaction amplificationCytogenetic analysisMidline cleavageReaction amplificationRearrangementPhenotypeCritical regionLinesHybridization
1997
PCR and FISH analysis of a ring Y chromosome
Henegariu O, Kernek S, Keating M, Palmer C, Heerema N. PCR and FISH analysis of a ring Y chromosome. American Journal Of Medical Genetics 1997, 69: 171-176. PMID: 9056556, DOI: 10.1002/(sici)1096-8628(19970317)69:2<171::aid-ajmg11>3.0.co;2-i.Peer-Reviewed Original ResearchMild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)
Henegariu O, Heerema N, Vance G. Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3). American Journal Of Medical Genetics 1997, 68: 450-454. PMID: 9021020, DOI: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>3.0.co;2-r.Peer-Reviewed Original Research