2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth
Zemet R, Parobek C, Adams A, Maktabi M, Shay L, Meng L, Liu P, Dai H, Xia F, Eng C, Van den Veyver I, Vossaert L. Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth. Prenatal Diagnosis 2025, 45: 1313-1324. PMID: 40423626, DOI: 10.1002/pd.6817.Peer-Reviewed Original ResearchPathogenic variantsExome sequencingStructural anomaliesDiagnostic yield of exome sequencingCompound heterozygous pathogenic variantsMolecular diagnosisAbsence of structural anomaliesGenetic work-upHeterozygous pathogenic variantsRelevant family historyFisher's exact testSpectrum of indicationsMeier-Gorlin syndromeFetal phenotypeFetal anomaliesDiagnostic yieldPrenatal ESExact testFamily historyFetusesMultiple anomaliesWork-upDiagnostic ESStillbirthDiagnosis
2021
Causal Genetic Variants in Stillbirth
Stanley K, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari A, Revah‐Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker C, Goldenberg R, Saade G, Dudley D, Pinar H, Hogue C, Reddy U, Silver R, Aggarwal V, Allen A, Wapner R, Goldstein D. Causal Genetic Variants in Stillbirth. Obstetric Anesthesia Digest 2021, 41: 42-42. DOI: 10.1097/01.aoa.0000732532.96202.8a.Peer-Reviewed Original Research
2020
Current Concepts Regarding Patellofemoral Trochlear Dysplasia
Levy BJ, Tanaka MJ, Fulkerson JP. Current Concepts Regarding Patellofemoral Trochlear Dysplasia. The American Journal Of Sports Medicine 2020, 49: 1642-1650. PMID: 33021814, DOI: 10.1177/0363546520958423.Peer-Reviewed Original ResearchConceptsRecurrent patellar instabilityTrochlear dysplasiaPatellar instabilityPatellofemoral jointMedial quadriceps tendon-femoral ligamentMajority of patientsTibial tubercle transferMajority of casesArticular cartilageSurgical stabilizationMedial patellofemoralOptimal treatmentTubercle transferDysplasiaPatientsComplex structural anomaliesPatellofemoral trackingSurgical planningTrochleoplastyStructural anomaliesSpecific deficitsCartilagePatellofemoralMajority
2014
Neural-Specific Deletion of Htra2 Causes Cerebellar Neurodegeneration and Defective Processing of Mitochondrial OPA1
Patterson VL, Zullo AJ, Koenig C, Stoessel S, Jo H, Liu X, Han J, Choi M, DeWan AT, Thomas JL, Kuan CY, Hoh J. Neural-Specific Deletion of Htra2 Causes Cerebellar Neurodegeneration and Defective Processing of Mitochondrial OPA1. PLOS ONE 2014, 9: e115789. PMID: 25531304, PMCID: PMC4274161, DOI: 10.1371/journal.pone.0115789.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBehavior, AnimalBlotting, WesternCell ProliferationCerebellumFemaleGTP PhosphohydrolasesHigh-Temperature Requirement A Serine Peptidase 2MaleMiceMice, Inbred C57BLMice, KnockoutMitochondriaMitochondrial ProteinsNerve DegenerationNeuronsParkinson DiseaseReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSequence DeletionSerine EndopeptidasesSignal TransductionConceptsNeural-specific deletionStriatal neuronal lossPostnatal day 18Days of ageNeuronal lossNeurological symptomsParkinson's diseaseMouse modelParkinsonian phenotypeSystemic effectsMitochondrial Opa1Day 18Premature deathMutant miceNeural contributionsMiceCerebellar neurodegenerationKey moleculesStructural anomaliesAbnormal activityAbnormal morphologyCerebellumDiseaseComplete penetranceDeath
2012
Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation
Wei Y, Xu F, Li P. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation. Journal Of Genetics And Genomics 2012, 40: 1-14. PMID: 23357340, DOI: 10.1016/j.jgg.2012.12.004.Peer-Reviewed Original ResearchConceptsMultiple congenital anomaliesArray comparative genomic hybridizationEvidence-based practice guidelinesPatient-control studyPrenatal genetic evaluationAutistic spectrum disorderRational therapeutic interventionsNormal cytogenetic findingsMulti-centre comparisonImmediate clinical applicationPediatric patientsCase seriesPediatric experienceCongenital anomaliesPractice guidelinesDiagnostic yieldClinical validityTherapeutic interventionsCytogenetic findingsAbnormalitiesComparative genomic hybridizationDisease-causing mechanismsIntellectual disabilityStructural anomalies
1993
Ultrasound screening for fetal structural anomalies
Gomez K, Copel J. Ultrasound screening for fetal structural anomalies. Current Opinion In Obstetrics & Gynecology 1993, 5: 204-210. PMID: 8490090, DOI: 10.1097/00001703-199304000-00006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsFetal structural anomaliesStructural anomaliesRoutine ultrasound screeningFour-chamber viewNeural tube defectsRoutine ultrasoundUltrasound screeningHigh riskUltrasound prenatal diagnosisTube defectsUltrasoundPregnancyPrenatal diagnosisDiagnostic ultrasoundControversial topicPatientsObstetricsFetusesAmniocentesisDiagnosis
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