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References

These sources were used to develop the Genetics Home Reference gene summary on the TBX1 gene.

Arnold JS, Braunstein EM, Ohyama T, Groves AK, Adams JC, Brown MC, Morrow BE. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet. 2006 May 15;15(10):1629-39. Epub 2006 Apr 6. PubMed citation
Baldini A. DiGeorge's syndrome: a gene at last. Lancet. 2003 Oct 25;362(9393):1342-3. PubMed citation
Baldini A. DiGeorge syndrome: an update. Curr Opin Cardiol. 2004 May;19(3):201-4. Review. PubMed citation
Baldini A. Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev. 2005 Jun;15(3):279-84. Review. PubMed citation
Entrez Gene
Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R37-44. Review. PubMed citation
Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34. Epub 2006 May 9. PubMed citation
Plageman TF Jr, Yutzey KE. T-box genes and heart development: putting the "T" in heart. Dev Dyn. 2005 Jan;232(1):11-20. Review. PubMed citation
Stoller JZ, Epstein JA. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. 2005 Apr 1;14(7):885-92. Epub 2005 Feb 9. PubMed citation
Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2007 Feb;120(6):837-45. Epub 2006 Oct 7. PubMed citation
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. PubMed citation
Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med. 2003 Sep;9(9):383-9. Review. PubMed citation
Zweier C, Sticht H, Aydin-Yaylag�l I, Campbell CE, Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet. 2007 Mar;80(3):510-7. Epub 2007 Jan 18. PubMed citation


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