2009
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal Of Medical Genetics Part A 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.Peer-Reviewed Original ResearchAbnormalities, MultipleArachnoid CystsBlood Specimen CollectionChromosome MappingChromosomes, Human, Pair 11DNADNA Copy Number VariationsFamilyFemaleGenome, HumanGenome-Wide Association StudyGenotypeHomozygoteHumansIntellectual DisabilityLissencephalyLod ScoreMalePedigreePhenotypePolymorphism, Single NucleotideSyndromeA novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group. Journal Of Clinical Neuroscience 2009, 16: 1610-1614. PMID: 19793656, DOI: 10.1016/j.jocn.2009.03.022.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAniridiaChromosome AberrationsChromosomes, Human, Pair 11CytogeneticsEye ProteinsFamily HealthFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHomeodomain ProteinsHumansMagnetic Resonance ImagingMaleOligonucleotide Array Sequence AnalysisPaired Box Transcription FactorsPAX6 Transcription FactorRepressor ProteinsSequence DeletionTurkeyConceptsCopy number variationsPAX6 geneNumber variationsArray-based comparative genomic hybridizationBox gene 6Submicroscopic copy number variationsHuman genomeComparative genomic hybridizationCytogenetic variationRegulatory elementsChromosome 11p13Human diseasesGenesGene 6Causative genesGenomic hybridizationSubmicroscopic deletionHeterozygous deletionDeletionLarge family groupsComplete absenceMolecular diagnosisFamily groupsChromosomal abnormalitiesGenome
2006
Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31
Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31. Stroke 2006, 37: 1021-1027. PMID: 16497978, DOI: 10.1161/01.str.0000206153.92675.b9.Peer-Reviewed Original ResearchConceptsGenome-wide linkage analysisMolecular genetic analysisGenetic analysisSusceptibility genesLinkage analysisSimple Mendelian traitPolymorphic microsatellite markersSignificant LOD scoreGenomic regionsMendelian traitsMicrosatellite markersCandidate lociGene chipOutlier approachOdds (LOD) scoreGenesChromosome 11q24Chromosome 11qAvailable family membersLOD scoreGenetic heterogeneityIa geneLociSib pairsGenetic factors