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Journal Abstract Search

193 related items for PubMed ID: 22652393

  • 1. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.
    Schneider T, Skitt Z, Liu Y, Deacon RM, Flint J, Karmiloff-Smith A, Rawlins JN, Tassabehji M.
    Behav Brain Res; 2012 Aug 01; 233(2):458-73. PubMed ID: 22652393
    [Abstract] [Full Text] [Related]

  • 2. Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
    Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X, Pang TY, Renoir T, Hardeman EC, Hannan AJ.
    Neurobiol Dis; 2012 Mar 01; 45(3):913-22. PubMed ID: 22198572
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  • 3. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.
    van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI.
    Neurobiol Dis; 2007 Apr 01; 26(1):112-24. PubMed ID: 17270452
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  • 4. RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.
    Corley SM, Canales CP, Carmona-Mora P, Mendoza-Reinosa V, Beverdam A, Hardeman EC, Wilkins MR, Palmer SJ.
    BMC Genomics; 2016 Jun 13; 17():450. PubMed ID: 27295951
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  • 5. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
    J Med Genet; 2010 May 13; 47(5):312-20. PubMed ID: 19897463
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  • 6. Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
    Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW, Hardeman EC.
    J Biol Chem; 2010 Feb 12; 285(7):4715-24. PubMed ID: 20007321
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  • 7. The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.
    Canales CP, Wong AC, Gunning PW, Housley GD, Hardeman EC, Palmer SJ.
    Eur J Hum Genet; 2015 Jun 12; 23(6):774-80. PubMed ID: 25248400
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  • 8. Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.
    Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, Chambers J, Mount HT, Fletcher PJ, Roder JC, Osborne LR.
    Genes Brain Behav; 2008 Mar 12; 7(2):224-34. PubMed ID: 17680805
    [Abstract] [Full Text] [Related]

  • 9. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
    Kopp N, McCullough K, Maloney SE, Dougherty JD.
    Hum Mol Genet; 2019 Oct 15; 28(20):3443-3465. PubMed ID: 31418010
    [Abstract] [Full Text] [Related]

  • 10. Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
    O'Leary J, Osborne LR.
    PLoS One; 2011 Oct 15; 6(8):e23868. PubMed ID: 21909369
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  • 11. Extensive characterization of a Williams syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior.
    Nygaard KR, Maloney SE, Swift RG, McCullough KB, Wagner RE, Fass SB, Garbett K, Mirnics K, Veenstra-VanderWeele J, Dougherty JD.
    Genes Brain Behav; 2023 Aug 15; 22(4):e12853. PubMed ID: 37370259
    [Abstract] [Full Text] [Related]

  • 12. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
    Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.
    Proc Natl Acad Sci U S A; 2004 Jul 27; 101(30):11052-7. PubMed ID: 15243160
    [Abstract] [Full Text] [Related]

  • 13. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
    Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M.
    PLoS One; 2012 Jul 27; 7(10):e47457. PubMed ID: 23118870
    [Abstract] [Full Text] [Related]

  • 14. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
    Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.
    Autism Res; 2011 Feb 27; 4(1):28-39. PubMed ID: 21328569
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  • 16. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
    Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF.
    Am J Hum Genet; 2012 Jun 08; 90(6):1071-8. PubMed ID: 22608712
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  • 19. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
    Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B.
    Am J Med Genet A; 2021 Jan 08; 185(1):242-249. PubMed ID: 33098373
    [Abstract] [Full Text] [Related]

  • 20. Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.
    Borralleras C, Sahun I, Pérez-Jurado LA, Campuzano V.
    Mol Ther; 2015 Nov 08; 23(11):1691-1699. PubMed ID: 26216516
    [Abstract] [Full Text] [Related]

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