2011
A balanced t(10;15) translocation in a male patient with developmental language disorder
Ercan-Sencicek AG, Wright N, Sanders SJ, Oakman N, Valdes L, Bakkaloglu B, Doyle N, Yrigollen CM, Morgan TM, Grigorenko EL. A balanced t(10;15) translocation in a male patient with developmental language disorder. European Journal Of Medical Genetics 2011, 55: 128-131. PMID: 22266071, PMCID: PMC3322462, DOI: 10.1016/j.ejmg.2011.12.005.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsChildChromosome BreakpointsChromosomes, Human, Pair 10Chromosomes, Human, Pair 15HumansIn Situ Hybridization, FluorescenceLanguage Development DisordersMaleSemaphorinsTranslocation, GeneticConceptsLanguage disordersDevelopmental language disorderMale patientsMale childrenCytogenetic findingsPhysical abnormalitiesDisordersChildren's parentsSitu hybridization analysisSample of individualsFurther evidenceDe novoClone mappingPatientsHybridization analysisTranslocationENTPD1AbnormalitiesBreakpoints
2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndromeRapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Drazinic CM, Ercan‐Sencicek A, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23). American Journal Of Medical Genetics Part A 2005, 134A: 282-289. PMID: 15754353, DOI: 10.1002/ajmg.a.30616.Peer-Reviewed Original ResearchMeSH KeywordsChromosome BandingChromosomes, Artificial, BacterialChromosomes, Human, Pair 18Chromosomes, Human, Pair 5FemaleHumansIn Situ Hybridization, FluorescenceKaryotypingMagnetic Resonance ImagingMiddle AgedNucleic Acid HybridizationPolymorphism, Single NucleotidePsychotic DisordersTranslocation, GeneticConceptsBacterial artificial chromosomeChromosome 18Molecular cytogenetic mappingSingle nucleotide polymorphism arrayArray-based copy number analysisCytogenetic mappingNucleotide polymorphism arrayCopy number analysisArray-based methodsSubtle chromosomal abnormalitiesSNP chipArtificial chromosomesChromosomal intervalChromosomal rearrangementsDerivative chromosome 18Array findingsSNP arrayGenomic characterizationLinkage analysisArray-based experimentsPolymorphism array