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  • Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH., et al., 2008. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82(1):150159.
  • American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders: DSM-IV. Washington, DC: American Psychiatric Association. vol. xxvii, 886 p.
  • Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, et al., 2010. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20):40724082.
  • Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, et al., 2012. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21(21):47814792.
  • Ashwood P, Anthony A, Pellicer AA, Torrente F, Walker-Smith JA, Wakefield AJ. 2003. Intestinal lymphocyte populations in children with regressive autism: Evidence for extensive mucosal immunopathology. J Clin Immunol 23(6):504517.
  • Ashwood P, Wills S, Van de Water J. 2006. The immune response in autism: A new frontier for autism research. J Leukoc Biol 80(1):115.
  • Ashwood P, Enstrom A, Krakowiak P, Hertz-Picciotto I, Hansen RL, Croen LA, Ozonoff S, Pessah IN, Van de Water J. 2008. Decreased transforming growth factor beta1 in autism: A potential link between immune dysregulation and impairment in clinical behavioral outcomes. J Neuroimmunol 204(1–2):149153.
  • Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. 1995. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 25(1):6377.
  • Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263265.
  • Braunschweig D, Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Croen LA, Pessah IN, Van de Water J. 2008. Autism: Maternally derived antibodies specific for fetal brain proteins. Neurotoxicology 29(2):226231.
  • Connolly JJ, Glessner JT, Hakonarson H. 2012. A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. Child Dev.
  • Correia C, Coutinho AM, Almeida J, Lontro R, Lobo C, Miguel TS, Martins M, Gallagher L, Conroy J, Gill M, et al., 2009. Association of the alpha4 integrin subunit gene (ITGA4) with autism. Am J Med Genet B Neuropsychiatr Genet 150B(8):11471151.
  • Crow TJ, DeLisi LE, Johnstone EC. 1989. Concordance by sex in sibling pairs with schizophrenia is paternally inherited. Evidence for a pseudoautosomal locus. Br J Psychiatry 155:9297.
  • Crow TJ, Delisi LE, Lofthouse R, Poulter M, Lehner T, Bass N, Shah T, Walsh C, Boccio-Smith A, Shields G, et al., 1994. An examination of linkage of schizophrenia and schizoaffective disorder to the pseudoautosomal region (Xp22.3). Br J Psychiatry 164(2):159164.
  • Dufour EM, Deroche A, Bae Y, Muller WA. 2008. CD99 is essential for leukocyte diapedesis in vivo. Cell Commun Adhes 15(4):351363.
  • Ellis NA, Tippett P, Petty A, Reid M, Weller PA, Ye TZ, German J, Goodfellow PN, Thomas S, Banting G. 1994a. PBDX is the XG blood group gene. Nat Genet 8(3):285290.
  • Ellis NA, Ye TZ, Patton S, German J, Goodfellow PN, Weller P. 1994b. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nat Genet 6(4):394400.
  • Flaquer A, Rappold GA, Wienker TF, Fischer C. 2008. The human pseudoautosomal regions: A review for genetic epidemiologists. Eur J Hum Genet 16(7):771779.
  • Flaquer A, Fischer C, Wienker TF. 2009. A new sex-specific genetic map of the human pseudoautosomal regions (PAR1 and PAR2). Hum Hered 68(3):192200.
  • Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 2(12):943955.
  • Fombonne E. 2005. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 66(Suppl 10):38.
  • Freitag CM. 2007. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 12(1):222.
  • Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ. 2001. The autism genetic resource exchange: A resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 69(2):463466.
  • Hahn JH, Kim MK, Choi EY, Kim SH, Sohn HW, Ham DI, Chung DH, Kim TJ, Lee WJ, Park CK, et al., 1997. CD99 (MIC2) regulates the LFA-1/ICAM-1-mediated adhesion of lymphocytes, and its gene encodes both positive and negative regulators of cellular adhesion. J Immunol 159(5):22502258.
  • Happe F, Briskman J, Frith U. 2001. Exploring the cognitive phenotype of autism: Weak “central coherence” in parents and siblings of children with autism: I. Experimental tests. J Child Psychol Psychiatry 42(3):299307.
  • Hettinger JA, Liu X, Schwartz CE, Michaelis RC, Holden JJ. 2008. A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. Am J Med Genet B Neuropsychiatr Genet 147B(5):628636.
  • Hettinger JA, Liu X, Hudson ML, Lee A, Cohen IL, Michaelis RC, Schwartz CE, Lewis SM, Holden JJ. 2012. DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. Behav Brain Funct 8:19.
  • Hughes C, Leboyer M, Bouvard M. 1997. Executive function in parents of children with autism. Psychol Med 27(1):209220.
  • Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, et al., 2008. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82(1):199207.
  • Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, et al., 2008. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 40(10):12531260.
  • Krause I, He XS, Gershwin ME, Shoenfeld Y. 2002. Brief report: Immune factors in autism: A critical review. J Autism Dev Disord 32(4):337345.
  • Ku CS, Loy EY, Pawitan Y, Chia KS. 2010. The pursuit of genome-wide association studies: Where are we now? J Hum Genet 55(4):195206.
  • Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19(Suppl 1):S36S42.
  • Lauritsen MB, Pedersen CB, Mortensen PB. 2005. Effects of familial risk factors and place of birth on the risk of autism: A nationwide register-based study. J Child Psychol Psychiatry 46(9):963971.
  • Lencz T, Morgan TV, Athanasiou M, Dain B, Reed CR, Kane JM, Kucherlapati R, Malhotra AK. 2007. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry 12(6):572580.
  • Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, et al., 2009. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73(Pt 3):263273.
  • Mulvihill B, Wingate M, Kirby RS, Pettygrove S, Cunniff C, Meaney FJ, Miller L, Robinson C, Quintana G, Kaiser MY, et al. 2009. Prevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ 58(10):120.
  • Mitchell AA, Cutler DJ, Chakravarti A. 2003. Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet 72(3):598610.
  • Muller DJ, Schulze TG, Jahnes E, Cichon S, Krauss H, Kesper K, Held T, Maier W, Propping P, Nothen MM, et al., 2002. Association between a polymorphism in the pseudoautosomal X-linked gene SYBL1 and bipolar affective disorder. Am J Med Genet 114(1):7478.
  • Nakayama M, Kikuno R, Ohara O. 2002. Protein-protein interactions between large proteins: Two-hybrid screening using a functionally classified library composed of long cDNAs. Genome Res 12(11):17731784.
  • Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, et al., 2010. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2(49):49ra68ra.
  • Oh KI, Kim BK, Ban YL, Choi EY, Jung KC, Lee IS, Park SH. 2007. CD99 activates T cells via a costimulatory function that promotes raft association of TCR complex and tyrosine phosphorylation of TCR zeta. Exp Mol Med 39(2):176184.
  • Patel KG, Liu C, Cameron PL, Cameron RS. 2001. Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1. J Neurosci 21(20):79547968.
  • Pettersen RD, Bernard G, Olafsen MK, Pourtein M, Lie SO. 2001. CD99 signals caspase-independent T cell death. J Immunol 166(8):49314942.
  • Plioplys AV, Greaves A, Kazemi K, Silverman E. 1994. Lymphocyte function in autism and Rett syndrome. Neuropsychobiology 29(1):1216.
  • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al., 2007. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3):559575.
  • Rutter M, Caspi A, Fergusson D, Horwood LJ, Goodman R, Maughan B, Moffitt TE, Meltzer H, Carroll J. 2004. Sex differences in developmental reading disability: New findings from 4 epidemiological studies. JAMA 291(16):20072012.
  • Saito T, Parsia S, Papolos DF, Lachman HM. 2000. Analysis of the pseudoautosomal X-linked gene SYBL1in bipolar affective disorder: Description of a new candidate allele for psychiatric disorders. Am J Med Genet 96(3):317323.
  • Santangelo SL, Tsatsanis K. 2005. What is known about autism: Genes, brain, and behavior. Am J Pharmacogenomics 5(2):7192.
  • Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. 2004. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 75(6):11171123.
  • Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. 2007. High density SNP association study of a major autism linkage region on chromosome 17. Hum Mol Genet 16(6):704715.
  • Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF. 2010. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Mol Psychiatry 15(10):9961005.
  • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, et al., 2009. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246):528533.
  • Warren RP, Margaretten NC, Pace NC, Foster A. 1986. Immune abnormalities in patients with autism. J Autism Dev Disord 16(2):189197.
  • Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins and the Autism Consortium, Daly MJ, Chakravarti A. 2009. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265):802808.
  • Wheeler DL, Barrett T, Benson DA, Bryant SH, Canese K, Chetvernin V, Church DM, DiCuccio M, Edgar R, Federhen S, et al., 2006. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 34 (database issue): D173D180.
  • Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS. 2008. Neurexin 1alpha structural variants associated with autism. Neurosci Lett 438(3):368370.