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Journal Abstract Search


240 related items for PubMed ID: 23537858

  • 21. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
    Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M.
    Clin Genet; 2009 Oct; 76(4):348-56. PubMed ID: 19793310
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  • 22. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
    Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL.
    Am J Hum Genet; 2010 Nov 12; 87(5):671-8. PubMed ID: 20950788
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  • 23. Familial KANK1 deletion that does not follow expected imprinting pattern.
    Vanzo RJ, Martin MM, Sdano MR, South ST.
    Eur J Med Genet; 2013 May 12; 56(5):256-9. PubMed ID: 23454270
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  • 24. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
    Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.
    PLoS Genet; 2014 Sep 12; 10(9):e1004580. PubMed ID: 25188300
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  • 25. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
    Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.
    Am J Hum Genet; 2011 Oct 07; 89(4):551-63. PubMed ID: 21981781
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  • 28. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
    Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE.
    J Med Genet; 2010 Mar 07; 47(3):211-6. PubMed ID: 19752159
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  • 31. Role of metabotropic glutamate receptor 7 in autism spectrum disorders: a pilot study.
    Yang Y, Pan C.
    Life Sci; 2013 Feb 07; 92(2):149-53. PubMed ID: 23201551
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  • 32. Autism spectrum disorders and epilepsy: moving towards a comprehensive approach to treatment.
    Tuchman R, Alessandri M, Cuccaro M.
    Brain Dev; 2010 Oct 07; 32(9):719-30. PubMed ID: 20558021
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  • 33. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.
    Moss J, Howlin P, Magiati I, Oliver C.
    J Child Psychol Psychiatry; 2012 Aug 07; 53(8):883-91. PubMed ID: 22490014
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  • 37. Prevalence of autism spectrum disorder among Nigerian children with intellectual disability: a stopgap assessment.
    Bakare MO, Ebigbo PO, Ubochi VN.
    J Health Care Poor Underserved; 2012 May 07; 23(2):513-8. PubMed ID: 22643602
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  • 38. Autism spectrum disorders: molecular genetic advances.
    Bacchelli E, Maestrini E.
    Am J Med Genet C Semin Med Genet; 2006 Feb 15; 142C(1):13-23. PubMed ID: 16419096
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  • 40. Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
    Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC.
    BMC Med Genet; 2016 Feb 03; 17():8. PubMed ID: 26843181
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