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References

These sources were used to develop the Genetics Home Reference gene summary on the GTF2IRD1 gene.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13. PubMed citation
Entrez Gene
Franke Y, Peoples RJ, Francke U. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet. 1999;86(3-4):296-304. PubMed citation
Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003 Jul-Aug;5(4):311-21. PubMed citation
Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7(5):380-93. Review. PubMed citation
O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC. Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Mol Cell Biol. 1998 Nov;18(11):6641-52. Erratum in: Mol Cell Biol 2000 Jul;20(14):5361. PubMed citation
Ohazama A, Sharpe PT. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Dev Dyn. 2007 Oct;236(10):2884-8. PubMed citation
Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics. 1999 Apr 15;57(2):279-84. PubMed citation
Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. PubMed citation
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. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3. PubMed citation
Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. Epub 2003 Sep 2. Review. PubMed citation
Yan X, Zhao X, Qian M, Guo N, Gong X, Zhu X. Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. Biochem J. 2000 Feb 1;345 Pt 3:749-57. PubMed citation


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