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Journal Abstract Search

523 related items for PubMed ID: 20473310

  • 1. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
    Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.
    Nat Genet; 2010 Jun; 42(6):489-91. PubMed ID: 20473310
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  • 5. Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
    Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X.
    PLoS One; 2013 Jun; 8(2):e56639. PubMed ID: 23468870
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  • 7. Another piece of the autism puzzle.
    State MW.
    Nat Genet; 2010 Jun; 42(6):478-9. PubMed ID: 20502490
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  • 9. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
    Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.
    Hum Genet; 2011 Oct; 130(4):563-73. PubMed ID: 21424692
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  • 10. Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
    Caumes R, Smol T, Thuillier C, Balerdi M, Lestienne-Roche C, Manouvrier-Hanu S, Ghoumid J.
    Eur J Med Genet; 2020 Dec; 63(12):104072. PubMed ID: 32987185
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  • 12. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
    Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K.
    Clin Genet; 2013 Dec; 84(6):560-5. PubMed ID: 23350639
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  • 13. 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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  • 14. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
    Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ.
    Cell Rep; 2014 Oct 09; 9(1):16-23. PubMed ID: 25284784
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  • 15. The genetic landscapes of autism spectrum disorders.
    Huguet G, Ey E, Bourgeron T.
    Annu Rev Genomics Hum Genet; 2013 Oct 09; 14():191-213. PubMed ID: 23875794
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  • 16. Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.
    Huguet G, Nava C, Lemière N, Patin E, Laval G, Ey E, Brice A, Leboyer M, Szepetowski P, Gillberg C, Depienne C, Delorme R, Bourgeron T.
    PLoS One; 2014 Oct 09; 9(3):e88600. PubMed ID: 24594579
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  • 17. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
    Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH, Dawson G, Schellenberg GD, Battaglia A, Maestrini E, Autism Genome Project Consortium, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB.
    Sci Transl Med; 2010 Sep 15; 2(49):49ra68. PubMed ID: 20844286
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  • 19. Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.
    Yangngam S, Plong-On O, Sripo T, Roongpraiwan R, Hansakunachai T, Wirojanan J, Sombuntham T, Ruangdaraganon N, Limprasert P.
    Genet Test Mol Biomarkers; 2014 Jul 15; 18(7):510-5. PubMed ID: 24832020
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