2009
Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease. Journal Of Child Neurology 2009, 24: 618-624. PMID: 19151366, DOI: 10.1177/0883073808327833.Peer-Reviewed Original ResearchConceptsPelizaeus-Merzbacher diseaseBrain magnetic resonance imaging studiesNovel PLP1 mutationMagnetic resonance imaging studyResonance imaging studyVariable clinical expressionSpastic quadriplegiaSymptomatic patientsCerebral palsyProteolipid protein 1Clinical expressionFamily historyClinical informationDiffuse dysmyelinationPsychomotor delayPLP1 mutationsProteolipid protein 1 geneCerebellar ataxiaNovel missense mutationImaging studiesUnaffected childrenMaternal grandmotherPreimplantation genetic diagnosisMaternal uncleProtein 1 gene
2008
LabCorp v. Metabolite Laboratories: The Supreme Court listens, but declines to speak.
Klein RD, Mahoney MJ. LabCorp v. Metabolite Laboratories: The Supreme Court listens, but declines to speak. The Journal Of Law, Medicine & Ethics : A Journal Of The American Society Of Law, Medicine & Ethics 2008, 36: 141-9, 4. PMID: 18315767, DOI: 10.1111/j.1748-720X.2008.00243.x.Peer-Reviewed Original Research
2007
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. American Journal Of Human Genetics 2007, 81: 388-96. PMID: 17668388, PMCID: PMC1950796, DOI: 10.1086/519697.Peer-Reviewed Original ResearchMedical Legal Issues in Prenatal Diagnosis
Klein RD, Mahoney MJ. Medical Legal Issues in Prenatal Diagnosis. Clinics In Perinatology 2007, 34: 287-297. PMID: 17572235, DOI: 10.1016/j.clp.2007.03.006.Peer-Reviewed Original Research
2002
The comprehensive midtrimester test: High-sensitivity down syndrome test
Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: High-sensitivity down syndrome test. American Journal Of Obstetrics And Gynecology 2002, 186: 803-808. PMID: 11967511, DOI: 10.1067/mob.2002.121651.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlgorithmsAlpha-FetoproteinsAmniocentesisChorionic GonadotropinChorionic Gonadotropin, beta Subunit, HumanDown SyndromeEstriolFalse Positive ReactionsFemaleGestational AgeHumansNeckPregnancyPregnancy Trimester, SecondPrenatal DiagnosisSensitivity and SpecificityUltrasonography, PrenatalConceptsDown syndrome casesDown syndrome detectionMaternal ageSyndrome casesSyndrome detectionStepwise logistic regression analysisReceiver-operating characteristic curveBeta-core fragmentAdvanced maternal ageLogistic regression analysisDown syndrome riskLow-risk screeningFalse positive rateDifferent age groupsGestational ageLarge trialsSignificant markersSyndrome riskStudy groupNuchal thicknessClinical valueUltrasound biometryGenetic amniocentesisSmall studySonographic anomalies