412 related articles for article (PubMed ID: 9466987)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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; 48(2):163-70. PubMed ID: 9521869
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
Robinson WP; Waslynka J; Bernasconi F; Wang M; Clark S; Kotzot D; Schinzel A
Genomics; 1996 May; 34(1):17-23. PubMed ID: 8661020
[TBL] [Abstract][Full Text] [Related]
5. 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; 86(3-4):277-84. PubMed ID: 10575226
[TBL] [Abstract][Full Text] [Related]
6. 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; 8(3):215-22. PubMed ID: 10780788
[TBL] [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; 57(2):279-84. PubMed ID: 10198167
[TBL] [Abstract][Full Text] [Related]
8. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
Doll A; Grzeschik KH
Cytogenet Cell Genet; 2001; 95(1-2):20-7. PubMed ID: 11978965
[TBL] [Abstract][Full Text] [Related]
9. 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; 69(1):1-13. PubMed ID: 11013070
[TBL] [Abstract][Full Text] [Related]
10. Mutational mechanisms of Williams-Beuren syndrome deletions.
Bayés M; Magano LF; Rivera N; Flores R; Pérez Jurado LA
Am J Hum Genet; 2003 Jul; 73(1):131-51. PubMed ID: 12796854
[TBL] [Abstract][Full Text] [Related]
11. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
Peoples R; Franke Y; Wang YK; Pérez-Jurado L; Paperna T; Cisco M; Francke U
Am J Hum Genet; 2000 Jan; 66(1):47-68. PubMed ID: 10631136
[TBL] [Abstract][Full Text] [Related]
12. 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; 12(7):551-60. PubMed ID: 15100712
[TBL] [Abstract][Full Text] [Related]
13. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
Hinsley TA; Cunliffe P; Tipney HJ; Brass A; Tassabehji M
Protein Sci; 2004 Oct; 13(10):2588-99. PubMed ID: 15388857
[TBL] [Abstract][Full Text] [Related]
14. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
[TBL] [Abstract][Full Text] [Related]
15. 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; 101(30):11052-7. PubMed ID: 15243160
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
Dutly F; Schinzel A
Hum Mol Genet; 1996 Dec; 5(12):1893-8. PubMed ID: 8968740
[TBL] [Abstract][Full Text] [Related]
18. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
Peoples RJ; Cisco MJ; Kaplan P; Francke U
Cytogenet Cell Genet; 1998; 82(3-4):238-46. PubMed ID: 9858827
[TBL] [Abstract][Full Text] [Related]
19. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
Pérez Jurado LA; Peoples R; Kaplan P; Hamel BC; Francke U
Am J Hum Genet; 1996 Oct; 59(4):781-92. PubMed ID: 8808592
[TBL] [Abstract][Full Text] [Related]
20. 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; 7(7):737-47. PubMed ID: 10573005
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
