BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 36711815)

  • 1. Extensive characterization of a Williams Syndrome murine model shows
    Nygaard KR; Maloney SE; Swift RG; McCullough KB; Wagner RE; Fass SB; Garbett K; Mirnics K; Veenstra-VanderWeele J; Dougherty JD
    bioRxiv; 2023 Jan; ():. PubMed ID: 36711815
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 22(4):e12853. PubMed ID: 37370259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
    Kopp ND; Parrish PCR; Lugo M; Dougherty JD; Kozel BA
    Mol Genet Genomic Med; 2018 Sep; 6(5):749-765. PubMed ID: 30008175
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region.
    Bayarsaihan D; Dunai J; Greally JM; Kawasaki K; Sumiyama K; Enkhmandakh B; Shimizu N; Ruddle FH
    Genomics; 2002 Jan; 79(1):137-43. PubMed ID: 11827466
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.
    Proulx E; Young EJ; Osborne LR; Lambe EK
    J Neurodev Disord; 2010 Jun; 2(2):99-108. PubMed ID: 20585377
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
    Franke Y; Peoples RJ; Francke U
    Cytogenet Cell Genet; 1999; 86(3-4):296-304. PubMed ID: 10575229
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
    Dai L; Bellugi U; Chen XN; Pulst-Korenberg AM; Järvinen-Pasley A; Tirosh-Wagner T; Eis PS; Graham J; Mills D; Searcy Y; Korenberg JR
    Am J Med Genet A; 2009 Mar; 149A(3):302-14. PubMed ID: 19205026
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 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. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.
    Delgado LM; Gutierrez M; Augello B; Fusco C; Micale L; Merla G; Pastene EA
    Mol Syndromol; 2013 Mar; 4(3):143-7. PubMed ID: 23653586
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 47(5):312-20. PubMed ID: 19897463
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.