0000000000741772

AUTHOR

Ettore Tiraboschi

0000-0001-6872-6738

showing 1 related works from this author

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

2015

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 …

Nonsynonymous substitutionCandidate genemedicine.medical_specialtyShort CommunicationGenomicsS100 Calcium Binding Protein beta SubunitBiologyPolymorphism Single NucleotideDyslexia03 medical and health sciences0302 clinical medicineDCDC2Molecular geneticssingle-nucleotide polymorphismsmedicineHumansGenetic Predisposition to DiseasegeneticsGenotypingGenetic Association StudiesGenetics (clinical)ta515030304 developmental biologyGenetics0303 health sciencesperinnöllisyystiedeta1184DyslexiaSequence Analysis DNAmedicine.diseasedevelopmental dyslexiata3124Genetic epidemiologyCase-Control Studiesindividual genotypingMicrotubule-Associated Proteins030217 neurology & neurosurgeryJournal of Human Genetics
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