301 related articles for article (PubMed ID: 12865760)
1. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
Hirota H; Matsuoka R; Chen XN; Salandanan LS; Lincoln A; Rose FE; Sunahara M; Osawa M; Bellugi U; Korenberg JR
Genet Med; 2003; 5(4):311-21. PubMed ID: 12865760
[TBL] [Abstract][Full Text] [Related]
2. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.
Ohazama A; Sharpe PT
Dev Dyn; 2007 Oct; 236(10):2884-8. PubMed ID: 17823943
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
Kopp N; McCullough K; Maloney SE; Dougherty JD
Hum Mol Genet; 2019 Oct; 28(20):3443-3465. PubMed ID: 31418010
[TBL] [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; 7(7):737-47. PubMed ID: 10573005
[TBL] [Abstract][Full Text] [Related]
7. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B
J Med Genet; 1999 Jun; 36(6):478-80. PubMed ID: 10874638
[TBL] [Abstract][Full Text] [Related]
8. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.
van Hagen JM; van der Geest JN; van der Giessen RS; Lagers-van Haselen GC; Eussen HJ; Gille JJ; Govaerts LC; Wouters CH; de Coo IF; Hoogenraad CC; Koekkoek SK; Frens MA; van Camp N; van der Linden A; Jansweijer MC; Thorgeirsson SS; De Zeeuw CI
Neurobiol Dis; 2007 Apr; 26(1):112-24. PubMed ID: 17270452
[TBL] [Abstract][Full Text] [Related]
9. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
Dai L; Bellugi U; Chen XN; Pulst-Korenberg AM; Järvinen-Pasley A; Tirosh-Wagner T; Eis PS; Graham J; Mills D; Searcy Y; Korenberg JR
Am J Med Genet A; 2009 Mar; 149A(3):302-14. PubMed ID: 19205026
[TBL] [Abstract][Full Text] [Related]
10. Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.
Palmer SJ; Tay ES; Santucci N; Cuc Bach TT; Hook J; Lemckert FA; Jamieson RV; Gunnning PW; Hardeman EC
Gene Expr Patterns; 2007 Feb; 7(4):396-404. PubMed ID: 17239664
[TBL] [Abstract][Full Text] [Related]
11. Autism and Williams syndrome: a case report.
Herguner S; Mukaddes NM
World J Biol Psychiatry; 2006; 7(3):186-8. PubMed ID: 16861145
[TBL] [Abstract][Full Text] [Related]
12. A complete physical contig and partial transcript map of the Williams syndrome critical region.
Hockenhull EL; Carette MJ; Metcalfe K; Donnai D; Read AP; Tassabehji M
Genomics; 1999 Jun; 58(2):138-45. PubMed ID: 10366445
[TBL] [Abstract][Full Text] [Related]
13. [Williams syndrome: clinical, cytogenetical, neurophysiological and neuroanatomic study].
Aravena T; Castillo S; Carrasco X; Mena I; López J; Rojas JP; Rosemberg C; Schröter C; Aboitiz F
Rev Med Chil; 2002 Jun; 130(6):631-7. PubMed ID: 12194685
[TBL] [Abstract][Full Text] [Related]
14. 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; 73(1):20-7. PubMed ID: 11352562
[TBL] [Abstract][Full Text] [Related]
15. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Vandeweyer G; Van der Aa N; Reyniers E; Kooy RF
Am J Hum Genet; 2012 Jun; 90(6):1071-8. PubMed ID: 22608712
[TBL] [Abstract][Full Text] [Related]
16. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Osborne LR; Martindale D; Scherer SW; Shi XM; Huizenga J; Heng HH; Costa T; Pober B; Lew L; Brinkman J; Rommens J; Koop B; Tsui LC
Genomics; 1996 Sep; 36(2):328-36. PubMed ID: 8812460
[TBL] [Abstract][Full Text] [Related]
17. In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.
Gray V; Karmiloff-Smith A; Funnell E; Tassabehji M
Neuropsychologia; 2006; 44(5):679-85. PubMed ID: 16216290
[TBL] [Abstract][Full Text] [Related]
18. [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
van Hagen JM; Govaerts LC; de Coo IF; Gille JJ; Nieuwint AW; Madan K
Ned Tijdschr Geneeskd; 2001 Mar; 145(9):396-400. PubMed ID: 11253493
[TBL] [Abstract][Full Text] [Related]
19. A novel human gene FKBP6 is deleted in Williams syndrome.
Meng X; Lu X; Morris CA; Keating MT
Genomics; 1998 Sep; 52(2):130-7. PubMed ID: 9782077
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
