2017
Motor Stereotypies: A Pathophysiological Review
Péter Z, Oliphant ME, Fernandez TV. Motor Stereotypies: A Pathophysiological Review. Frontiers In Neuroscience 2017, 11: 171. PMID: 28405185, PMCID: PMC5370241, DOI: 10.3389/fnins.2017.00171.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMotor stereotypiesEffective evidence-based treatmentsPrimary motor stereotypiesEvidence-based treatmentsIntellectual disabilityPathophysiological reviewAutism spectrum disorderRisk factorsTypical onsetAnatomical locusBrain circuitsSymptom severityDevelopmental delayStereotypy onsetConsistent findingStereotypyBasis of riskEarly childhoodMendelian inheritance patternChildrenRhythmic movementsFuture studiesInheritance patternSpectrum disorderMore research
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
Disruption 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