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195 related items for PubMed ID: 10575229
1. 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 [Abstract] [Full Text] [Related]
2. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. Hum Mol Genet; 1998 Mar; 7(3):325-34. PubMed ID: 9466987 [Abstract] [Full Text] [Related]
4. 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 [Abstract] [Full Text] [Related]
5. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D. Proc Natl Acad Sci U S A; 2004 Jul 27; 101(30):11052-7. PubMed ID: 15243160 [Abstract] [Full Text] [Related]
6. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K. Eur J Hum Genet; 1999 Jul 27; 7(7):737-47. PubMed ID: 10573005 [Abstract] [Full Text] [Related]
7. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC. Genomics; 1999 Apr 15; 57(2):279-84. PubMed ID: 10198167 [Abstract] [Full Text] [Related]
8. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. de Luis O, Valero MC, Jurado LA. Eur J Hum Genet; 2000 Mar 15; 8(3):215-22. PubMed ID: 10780788 [Abstract] [Full Text] [Related]
9. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Pérez Jurado LA, Wang YK, Francke U, Cruces J. Cytogenet Cell Genet; 1999 Mar 15; 86(3-4):277-84. PubMed ID: 10575226 [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 01; 73(1):20-7. PubMed ID: 11352562 [Abstract] [Full Text] [Related]
11. A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Wang YK, Pérez-Jurado LA, Francke U. Genomics; 1998 Mar 01; 48(2):163-70. PubMed ID: 9521869 [Abstract] [Full Text] [Related]
12. 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 01; 47(5):312-20. PubMed ID: 19897463 [Abstract] [Full Text] [Related]
13. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, Ucla C, Guipponi M, Reymond A. Hum Genet; 2002 May 01; 110(5):429-38. PubMed ID: 12073013 [Abstract] [Full Text] [Related]
14. 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 01; 12(7):551-60. PubMed ID: 15100712 [Abstract] [Full Text] [Related]
15. 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 Jul 01; 7(10):e47457. PubMed ID: 23118870 [Abstract] [Full Text] [Related]
16. Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. Bayarsaihan D, Ruddle FH. Proc Natl Acad Sci U S A; 2000 Jun 20; 97(13):7342-7. PubMed ID: 10861001 [Abstract] [Full Text] [Related]
17. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A, Grzeschik KH. Cytogenet Cell Genet; 2001 Jun 20; 95(1-2):20-7. PubMed ID: 11978965 [Abstract] [Full Text] [Related]
18. STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion. Pezzi N, Prieto I, Kremer L, Pérez Jurado LA, Valero C, Del Mazo J, Martínez-A C, Barbero JL. FASEB J; 2000 Mar 20; 14(3):581-92. PubMed ID: 10698974 [Abstract] [Full Text] [Related]
20. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Valero MC, de Luis O, Cruces J, Pérez Jurado LA. Genomics; 2000 Oct 01; 69(1):1-13. PubMed ID: 11013070 [Abstract] [Full Text] [Related] Page: [Next] [New Search]