These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 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.