Studies of 15q11-q13 in autism

• Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics 1997,60:928-934
  • Other studies of families in which autism spectrum disorders found in maternal duplication of 15q11-q13 but not paternal 15q11-q13 duplication in the same families
    • Schroer RJ et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998 ,76:327-336
    • Gurrieri et al. Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13. Neurology 1999,52:1694-1697
    • Bolton PF et al. The phenotypic manifestations of interstitial duplications of proximal 15q, with special reference to the autistic spectrum disorders. Am J Med Genetics (Neuropsychiatric Genetics) 2001,105:675-685
• Herzing et al. Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Human Molecular Genetics 2002,11:1707-1718

• Linkage disequilibrium mapping with 15q11-13 markers in autistic disorder. American Journal of Human Genetics. 1998,62:1077-1083
  • Other studies of 15q11-q13 markers in autism
    • Bass et al. Genetic studies in autistic disorder and chromosome 15. Neurogenetics. 2000,2:219-226
    • Elena Maestrini, Cecilia Lai, Angela Marlow, Nicola Matthews, Simon Wallace, Anthony Bailey, Edwin H. Cook, Daniel E. Weeks, Anthony P. Monaco, International Molecular Genetic Study of Autism Consortium. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit 3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. Am J Med Genet (Neuropsychiatric Genetics) 1999,88:492-496
    • Salmon et al Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism. Am J Med Genet (Neuropsychiatric Genetics) 1999,88:551-556
    • Martin ER et al. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet. 2000,96:43-48
    • Nurmi EL et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 2001,77:105-113
    • Buxbaum et al. Association between a GABRB3 polymorphism and autism. Molecular Psychiatry 2002,7:311-316
    • Shao et al. Fine Mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. American Journal of Human Genetics 2003,72:539-548
• Herzing et al. The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am J Hum Genet 2001,68:1501-1505
• Veenstra-VanderWeele et al. Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Molecular Psychiatry. 1999,4:64-67

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