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Journal Abstract Search

191 related items for PubMed ID: 12700609

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  • 5. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
    Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R.
    Cell; 2001 Feb 23; 104(4):619-29. PubMed ID: 11239417
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  • 6. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.
    Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E.
    Turk J Pediatr; 2000 Feb 23; 42(3):215-8. PubMed ID: 11105620
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  • 7. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
    Stoller JZ, Epstein JA.
    Hum Mol Genet; 2005 Apr 01; 14(7):885-92. PubMed ID: 15703190
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  • 8. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
    Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D.
    Eur J Hum Genet; 2007 Jun 01; 15(6):658-63. PubMed ID: 17377518
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  • 9. 22q11.2 deletion mosaicism in patients with conotruncal heart defects.
    Jianrong L, Yinglong L, Xiaodong L, Cuntao Y, Bin C, Bo W.
    Birth Defects Res A Clin Mol Teratol; 2006 Apr 01; 76(4):262-5. PubMed ID: 16575883
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  • 10. Tbx1, subpulmonary myocardium and conotruncal congenital heart defects.
    Parisot P, Mesbah K, Théveniau-Ruissy M, Kelly RG.
    Birth Defects Res A Clin Mol Teratol; 2011 Jun 01; 91(6):477-84. PubMed ID: 21591244
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  • 11. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF.
    Eur J Med Genet; 2009 Jun 01; 52(2-3):88-93. PubMed ID: 19254783
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  • 13. The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning.
    Théveniau-Ruissy M, Dandonneau M, Mesbah K, Ghez O, Mattei MG, Miquerol L, Kelly RG.
    Circ Res; 2008 Jul 18; 103(2):142-8. PubMed ID: 18583714
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  • 18. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
    Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.
    Am J Hum Genet; 2015 Feb 05; 96(2):235-44. PubMed ID: 25658046
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  • 20. Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice.
    Okubo T, Kawamura A, Takahashi J, Yagi H, Morishima M, Matsuoka R, Takada S.
    Development; 2011 Jan 05; 138(2):339-48. PubMed ID: 21177346
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