Maurice Mahoney, MD, JD
Professor EmeritusDownloadHi-Res Photo
Cards
Appointments
Genetics
Primary
Additional Titles
Co-Chair, Embryonic Stem Cell Research Oversight Committee
Executive Director, Human Investigation Committee
Contact Info
Appointments
Genetics
Primary
Additional Titles
Co-Chair, Embryonic Stem Cell Research Oversight Committee
Executive Director, Human Investigation Committee
Contact Info
Appointments
Genetics
Primary
Additional Titles
Co-Chair, Embryonic Stem Cell Research Oversight Committee
Executive Director, Human Investigation Committee
Contact Info
About
Titles
Professor Emeritus
Co-Chair, Embryonic Stem Cell Research Oversight Committee; Executive Director, Human Investigation Committee
Appointments
Genetics
EmeritusPrimary
Other Departments & Organizations
- Genetics
- Genetics Consultation Service
- Prenatal Laboratory
- Program for Biomedical Ethics
- Yale Ventures
Education & Training
- JD
- University of Connecticut (1994)
- MD
- University of Pittsburgh (1962)
- Resident
- Johns Hopkins Hospital
- Fellow
- Children's Hospital of Pittsburgh
- Fellow
- Yale University School of Medicine
Board Certifications
Medical Genetics
- Certification Organization
- AB of Medical Genetics
- Original Certification Date
- 1982
Pediatrics
- Certification Organization
- AB of Pediatrics
- Original Certification Date
- 1967
Research
Overview
Collaborative studies with members of the Department of Obstetrics
& Gynecology at Yale and other medical centers are addressing the
biology of the human conceptus, embryo, and fetus and methods of
prenatal diagnosis and possible fetal therapies in human pregnancies.
We are pursuing the evaluation of innovative fetal therapies. Several effective therapeutic approaches have been developed in recent years which include surgical intervention and the medical introduction of trace nutrients. Finally, methods are being developed to study the human pre-embryo prior to implantation as a forerunner of diagnostic procedures applied at that stage.
We are pursuing the evaluation of innovative fetal therapies. Several effective therapeutic approaches have been developed in recent years which include surgical intervention and the medical introduction of trace nutrients. Finally, methods are being developed to study the human pre-embryo prior to implantation as a forerunner of diagnostic procedures applied at that stage.
Medical Research Interests
Embryonic Stem Cells; Ethics, Research; Fetal Diseases; Genetics, Medical; Gynecology; Stem Cells
Research at a Glance
Publications Timeline
A big-picture view of Maurice Mahoney's research output by year.
5Publications
47Citations
Publications
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 ResearchCitationsMeSH Keywords and ConceptsConceptsPelizaeus-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 ResearchCitationsMeSH Keywords and Concepts
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 ResearchCitationsMeSH Keywords and ConceptsMeSH 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
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Contacts
Academic Office Number
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Locations
47 College Street
Academic Office
Ste Suite 204
New Haven, CT 06510
Appointments
203.785.4688