2016
Mismatch repair deficiency testing in clinical practice
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Review Of Molecular Diagnostics 2016, 16: 591-604. PMID: 26895074, DOI: 10.1586/14737159.2016.1156533.Peer-Reviewed Original ResearchConceptsLynch syndromeDeficiency testingMismatch repair deficiency testingMicrosatellite instabilityMMR deficiency testingMMR gene deficiencyDNA mismatch repair genesCurrent diagnostic algorithmsLynch syndrome familiesProfound genetic instabilityMicrosatellite instability analysisMismatch repair genesEndometrial malignancyClinical managementUltimate diagnosisClinical OncologyClinical practiceClinical testingTumor tissueSyndromeCancer developmentMMR genesDiagnostic algorithmGene deficiencyGermline DNA
2010
Glial Heterotopia of the Uterine Cervix: DNA Genotyping Confirmation of its Fetal Origin
Siddon A, Hui P. Glial Heterotopia of the Uterine Cervix: DNA Genotyping Confirmation of its Fetal Origin. International Journal Of Gynecological Pathology 2010, 29: 394-397. PMID: 20567155, DOI: 10.1097/pgp.0b013e3181c5a7e8.Peer-Reviewed Original ResearchConceptsGlial heterotopiaUterine cervixGlial tissueKlinefelter syndromeFetal originGlial fibrillary acidic proteinMature glial tissueFibrillary acidic proteinDown syndrome fetusesFetal brain tissueEndocervical glandular epitheliumFetal tissue samplesS100 immunohistochemistryCervical polypsCervical lesionsElective terminationIntriguing lesionsPregnancy terminationIdentical genetic profilesSyndrome fetusesGlandular epitheliumSyndromeBrain tissueFirst gestationDown syndrome
2009
Anaplastic oligoastrocytoma in Turcot syndrome
Baehring J, Hui P, Piepmeier J, Bannykh SI. Anaplastic oligoastrocytoma in Turcot syndrome. Journal Of Neuro-Oncology 2009, 95: 293-298. PMID: 19495563, DOI: 10.1007/s11060-009-9928-y.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAgedAstrocytomaColorectal Neoplasms, Hereditary NonpolyposisDNA Repair EnzymesDNA-Binding ProteinsDNA, NeoplasmFemaleHumansImmunoenzyme TechniquesMagnetic Resonance ImagingMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPedigreePolymerase Chain ReactionConceptsHereditary non-polyposis colorectal cancerTurcot syndromeAnaplastic oligoastrocytomaNon-polyposis colorectal cancerYear old womanHandful of casesColorectal cancerLarge bowelDNA mismatch repair systemOlder womenBrain tumorsTumor DNABody sitesFamilial clusteringGermline mutationsRare variantsSyndromeOligoastrocytomasCancerMismatch repair systemChance occurrenceDetailed molecular dataBowelPathogenesisTumors