BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 22198572)

  • 1. 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; 45(3):913-22. PubMed ID: 22198572
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 233(2):458-73. PubMed ID: 22652393
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.
    Palmer SJ; Tay ES; Santucci N; Cuc Bach TT; Hook J; Lemckert FA; Jamieson RV; Gunnning PW; Hardeman EC
    Gene Expr Patterns; 2007 Feb; 7(4):396-404. PubMed ID: 17239664
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 17():450. PubMed ID: 27295951
    [TBL] [Abstract][Full Text] [Related]  

  • 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; PĂ©rez-Jurado LA
    J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 23(6):774-80. PubMed ID: 25248400
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 28(20):3443-3465. PubMed ID: 31418010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 285(7):4715-24. PubMed ID: 20007321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
    Cummings CT; Starr LJ
    Am J Med Genet A; 2023 Feb; 191(2):332-337. PubMed ID: 36308390
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome.
    Durkin ME; Keck-Waggoner CL; Popescu NC; Thorgeirsson SS
    Genomics; 2001 Apr; 73(1):20-7. PubMed ID: 11352562
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
    Tipney HJ; Hinsley TA; Brass A; Metcalfe K; Donnai D; Tassabehji M
    Eur J Hum Genet; 2004 Jul; 12(7):551-60. PubMed ID: 15100712
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 26(1):112-24. PubMed ID: 17270452
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
    Hirota H; Matsuoka R; Chen XN; Salandanan LS; Lincoln A; Rose FE; Sunahara M; Osawa M; Bellugi U; Korenberg JR
    Genet Med; 2003; 5(4):311-21. PubMed ID: 12865760
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
    O'Leary J; Osborne LR
    PLoS One; 2011; 6(8):e23868. PubMed ID: 21909369
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GTF2IRD1 in craniofacial development of humans and mice.
    Tassabehji M; Hammond P; Karmiloff-Smith A; Thompson P; Thorgeirsson SS; Durkin ME; Popescu NC; Hutton T; Metcalfe K; Rucka A; Stewart H; Read AP; Maconochie M; Donnai D
    Science; 2005 Nov; 310(5751):1184-7. PubMed ID: 16293761
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.
    Kopp ND; Nygaard KR; Liu Y; McCullough KB; Maloney SE; Gabel HW; Dougherty JD
    Hum Mol Genet; 2020 Jun; 29(9):1498-1519. PubMed ID: 32313931
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 90(6):1071-8. PubMed ID: 22608712
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 7(2):224-34. PubMed ID: 17680805
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.
    Ohazama A; Sharpe PT
    Dev Dyn; 2007 Oct; 236(10):2884-8. PubMed ID: 17823943
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 7(10):e47457. PubMed ID: 23118870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.