2025
Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Shin J, Shin H, Gutierrez A, Yoo N, Par-Young J, Osmani L, Shin M, Sanchez-Lara P, Bucala R, Soffer G, Kang I. Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome. EBioMedicine 2025, 112: 105578. PMID: 39891996, PMCID: PMC11840234, DOI: 10.1016/j.ebiom.2025.105578.Peer-Reviewed Original ResearchConceptsCD4<sup>+</sup> T cellsRecurrent sinopulmonary infectionsT cell functionRNA-seq analysisT cellsHealthy controlsSinopulmonary infectionsRNA-seqT-betIFN-gFrequency of CD4<sup>+</sup> T cellsCD4<sup>+</sup> T cell functionTh1 transcription factor T-betDeletion syndromeFlow cytometryCompared to age-matched healthy controlsTranscription factor T-betDecreased T-betUrinary tract abnormalitiesAge-matched healthy controlsMultiplex assayDownstream effector cytokinesEffector cytokinesRecurrent infectionsTh17 cytokines
2023
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
Kramer R, Fatahian A, Chan A, Mortenson J, Osher J, Sun B, Parker L, Rosamilia M, Potter K, Moore K, Atkins S, Rosenfeld J, Birjiniuk A, Jones E, Howard T, Kim J, Scott D, Lalani S, Rouzbehani O, Kaplan S, Hathaway M, Cohen J, Asaki S, Martinez H, Boudina S, Landstrom A. PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. Circulation Genomic And Precision Medicine 2023, 16: 390-400. PMID: 37395136, PMCID: PMC10528350, DOI: 10.1161/circgen.122.003912.Peer-Reviewed Original ResearchConceptsConditional knockout miceKnockout miceCardiac transplantationCardiac mortalityRetrospective cohortIncreased risk of cardiomyopathyVentricular assist deviceDeletion syndromeAssociated with increased risk of deathMulti-institutional cohort studyReview cohortPediatric-onset cardiomyopathiesAssociated with increased riskRisk of cardiomyopathyPrevalence of cardiomyopathyRisk of deathSeverity of contractile dysfunctionPrognostic impactAssess fibrosisContractile dysfunctionCohort studyCardiomyopathyCardiac diseaseIncreased riskAssist device
2022
Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
Xie X, Chai H, DiAdamo A, Grommisch B, Wen J, Zhang H, Li P. Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature. Global Medical Genetics 2022, 09: 166-174. PMID: 35707784, PMCID: PMC9192176, DOI: 10.1055/s-0042-1743568.Peer-Reviewed Original ResearchGenotype-phenotype correlationBrain abnormalitiesAnti-epilepsy treatmentCommon clinical findingVariable clinical featuresEarly-onset Parkinson's diseaseTerminal deletion syndromePathogenic copy number variantsReview of literatureAdult patientsClinical featuresClinical findingsClinical managementParkinson's diseasePatientsDistal critical regionSystematic reviewUnrelated patientsDevelopmental delayParental studiesFacial dysmorphismDeletion syndromeGenetic counselingIntellectual disabilitySeizures
2020
Minor Physical Anomalies in Bipolar Disorder
İnce B, Altinoz M, Ayran A, Cansız A, Altinbaş K, Guloksuz S, Kurt E. Minor Physical Anomalies in Bipolar Disorder. Comprehensive Psychiatry 2020, 103: 152206. PMID: 33099105, DOI: 10.1016/j.comppsych.2020.152206.Peer-Reviewed Original ResearchConceptsBipolar disorderMinor physical anomaliesBD patientsHealthy subjectsHigh arched palatePhysical anomaliesAuricular anomaliesPsychiatric disordersCleft lipPathogenesis pathwaysPatientsMinor anomaliesDeletion syndromeDisordersSecond pharyngeal archesDorsal endPalateSchizophreniaRegression modelsAuriclePharyngeal archesFirst pharyngeal archArchNew endophenotypesSubjects
2008
Molecular characterization of a patient with 3p deletion syndrome and a review of the literature
Fernandez TV, García‐González I, Mason CE, Hernández‐Zaragoza G, Ledezma‐Rodríguez V, Anguiano‐Alvarez V, E'Vega R, Gutiérrez‐Angulo M, Maya ML, García‐Bejarano H, González‐Cruz M, Barrios S, Atorga R, López‐Cardona M, Armendariz‐Borunda J, State MW, Dávalos NO. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. American Journal Of Medical Genetics Part A 2008, 146A: 2746-2752. PMID: 18837054, DOI: 10.1002/ajmg.a.32533.Peer-Reviewed Original ResearchMeSH KeywordsChild, PreschoolChromosome DeletionChromosome DisordersChromosomes, Human, Pair 13Chromosomes, Human, Pair 3Comparative Genomic HybridizationCraniofacial AbnormalitiesDevelopmental DisabilitiesFemaleHumansIn Situ Hybridization, FluorescenceKaryotypingLimb Deformities, CongenitalMalePhenotypeSyndromeTranslocation, GeneticConceptsDeletion syndromeDysmorphic physical featuresArray-based comparative genomic hybridizationChild patientsRare disorderNovo unbalanced translocationGrowth retardationSyndromeDevelopmental delayRoutine cytogenetic analysisUnbalanced abnormalitiesComparative genomic hybridizationChromosome 3p26Unbalanced translocationPatientsChromosome 3pMb deletionCytogenetic analysisDisordersRare chromosomal rearrangementsSitu hybridizationGenomic hybridizationMb terminal deletionTerminal deletionDisruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome. American Journal Of Human Genetics 2008, 82: 1385. PMID: 18551756, PMCID: PMC2661627, DOI: 10.1016/j.ajhg.2008.04.021.Peer-Reviewed Original Research
2004
Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients With 22q11.2 Deletion Syndrome
Bearden C, Jawad A, Lynch D, Sokol S, Kanes S, McDonald-McGinn D, Saitta S, Harris S, Moss E, Wang P, Zackai E, Emanuel B, Simon T. Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients With 22q11.2 Deletion Syndrome. American Journal Of Psychiatry 2004, 161: 1700-1702. PMID: 15337663, DOI: 10.1176/appi.ajp.161.9.1700.Peer-Reviewed Original ResearchConceptsPrefrontal cognitive functionCognitive functionFunctional COMT polymorphismCatechol-O-methyltransferase (COMT) geneAttentional problemsDeletion syndromeExecutive functionPrefrontal cognitionExecutive dysfunctionNeurocognitive testingBehavioral manifestationsCOMT genotypeCOMT polymorphismAnalysis of covarianceComposite measureFunctional genetic polymorphismsCognitionIndividualsPresent studySchizophreniaPrevious studiesPredictorsMeasuresO-methyltransferase geneNormal individualsDisruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome. American Journal Of Human Genetics 2004, 74: 1286-1293. PMID: 15106122, PMCID: PMC1182094, DOI: 10.1086/421474.Peer-Reviewed Original ResearchMeSH KeywordsCell Adhesion Molecules, NeuronalChildChromosome BreakageChromosome DeletionChromosomes, Human, Pair 10Chromosomes, Human, Pair 3ContactinsCraniofacial AbnormalitiesDevelopmental DisabilitiesGene RearrangementGrowth DisordersHumansIn Situ Hybridization, FluorescenceKaryotypingMalePhenotypeRNA, MessengerSyndromeTelomereTranslocation, GeneticConceptsCentral nervous systemDevelopmental delayDeletion syndromeObserved clinical manifestationsAbnormal CNS developmentNeuronal cell adhesion moleculeClinical manifestationsCell adhesion moleculeNervous systemCharacteristic physical featuresGrowth retardationSyndromeDeletion syndrome phenotypeDysmorphic featuresAxon growthContiguous gene disorderImmunoglobulin super familyAdhesion moleculesSyndrome phenotypeCausative relationshipCNS developmentNeural developmentTelomeric portionRare contiguous gene disorderChromosome 3
2001
Graves' disease in patients with 22q11.2 deletion
Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason M, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn D. Graves' disease in patients with 22q11.2 deletion. The Journal Of Pediatrics 2001, 139: 892-895. PMID: 11743521, DOI: 10.1067/mpd.2001.119448.Peer-Reviewed Original ResearchConceptsGraves' diseaseThyroid-stimulating hormone levelsSymptoms of hyperthyroidismMale patientsSerum levelsClinical presentationFemale patientsClinical spectrumFemale infantAge 27 monthsHormone levelsPatientsThyroid hormonesDiseaseDeletion syndromeHyperthyroidismSeizuresInfantsSyndromeSymptomsHormoneMonthsThe Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory
Bearden C, Woodin M, Wang P, Moss E, McDonald-McGinn D, Zackai E, Emannuel B, Cannon T. The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory. Journal Of Clinical And Experimental Neuropsychology 2001, 23: 447-464. PMID: 11780945, DOI: 10.1076/jcen.23.4.447.1228.Peer-Reviewed Original ResearchConceptsVisual-spatial memorySelective deficitNeurocognitive phenotypeComprehensive neuropsychological test batteryVisual-spatial cognitionPattern of deficitsNeuropsychological test batteryNon-verbal skillsSelective cognitive deficitsAcademic achievement testingVisual cognitionObject memoryVisuospatial memoryVerbal skillsTest batteryCognitive deficitsLearning deficitsAchievement testingDeletion syndromeMemoryDeficitsCognitionSkillsChildrenIQEndocrine aspects of the 22q11.2 deletion syndrome
Weinzimer S. Endocrine aspects of the 22q11.2 deletion syndrome. Genetics In Medicine 2001, 3: 19-22. PMID: 11339371, DOI: 10.1097/00125817-200101000-00005.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyEndocrine disturbancesEndocrine disordersHormonal disordersAppropriate screeningHormone deficiencyEndocrine aspectsEndocrinological manifestationsPatientsDiGeorge syndromeDeletion syndromeSyndromeDisordersCurrent understandingHypoparathyroidismHyperthyroidismHypothyroidismDeletionCommunication issues in 22q11.2 deletion syndrome: Children at risk
Solot C, Gerdes M, Kirschner R, McDonald-McGinn D, Moss E, Woodin M, Aleman D, Zackai E, Wang P. Communication issues in 22q11.2 deletion syndrome: Children at risk. Genetics In Medicine 2001, 3: 67-71. PMID: 11339383, DOI: 10.1097/00125817-200101000-00015.Peer-Reviewed Original ResearchNeuropsychological profile of children and adolescents with the 22q11.2 microdeletion
Woodin M, Wang P, Aleman D, McDonald-McGinn D, Zackai E, Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics In Medicine 2001, 3: 34-39. PMID: 11339375, DOI: 10.1097/00125817-200101000-00008.Peer-Reviewed Original ResearchConceptsNonverbal learning disabilitiesNonverbal IQ scoresBrain-behavior relationshipsSocial-emotional concernsAreas of attentionAreas of achievementVerbal memoryVisuospatial memoryStory memoryNeuropsychological profileArithmetic performanceDeletion syndromePsychosocial functioningLanguage deficitsNeuropsychological characteristicsNeuropsychological dataIQ scoresLearning DisabilitiesMemoryBehavioral phenotypesChildrenDeficitsAdolescentsFunctioningAchievement
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