242 related articles for article (PubMed ID: 15703190)
1. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
Stoller JZ; Epstein JA
Hum Mol Genet; 2005 Apr; 14(7):885-92. PubMed ID: 15703190
[TBL] [Abstract][Full Text] [Related]
2. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
Torres-Juan L; Rosell J; Morla M; Vidal-Pou C; García-Algas F; de la Fuente MA; Juan M; Tubau A; Bachiller D; Bernues M; Perez-Granero A; Govea N; Busquets X; Heine-Suñer D
Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
[TBL] [Abstract][Full Text] [Related]
3. Identification of the TBX5 transactivating domain and the nuclear localization signal.
Zaragoza MV; Lewis LE; Sun G; Wang E; Li L; Said-Salman I; Feucht L; Huang T
Gene; 2004 Apr; 330():9-18. PubMed ID: 15087119
[TBL] [Abstract][Full Text] [Related]
4. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
Cabuk F; Karabulut HG; Tuncali T; Karademir S; Bozdayi M; Tükün A
Turk J Pediatr; 2007; 49(1):61-8. PubMed ID: 17479646
[TBL] [Abstract][Full Text] [Related]
5. Dissecting contiguous gene defects: TBX1.
Baldini A
Curr Opin Genet Dev; 2005 Jun; 15(3):279-84. PubMed ID: 15917203
[TBL] [Abstract][Full Text] [Related]
6. Mouse models of 22q11 deletion syndrome.
Paylor R; Lindsay E
Biol Psychiatry; 2006 Jun; 59(12):1172-9. PubMed ID: 16616724
[TBL] [Abstract][Full Text] [Related]
7. Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development.
Moraes F; Nóvoa A; Jerome-Majewska LA; Papaioannou VE; Mallo M
Mech Dev; 2005 Feb; 122(2):199-212. PubMed ID: 15652707
[TBL] [Abstract][Full Text] [Related]
8. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A
Am J Med Genet; 1999 Sep; 86(1):27-33. PubMed ID: 10440825
[TBL] [Abstract][Full Text] [Related]
9. Microduplication 22q11.2: a new chromosomal syndrome.
Portnoï MF
Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
[TBL] [Abstract][Full Text] [Related]
10. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
Bedard JE; Purnell JD; Ware SM
Hum Mol Genet; 2007 Jan; 16(2):187-98. PubMed ID: 17185387
[TBL] [Abstract][Full Text] [Related]
11. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
[TBL] [Abstract][Full Text] [Related]
12. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
Conti E; Grifone N; Sarkozy A; Tandoi C; Marino B; Digilio MC; Mingarelli R; Pizzuti A; Dallapiccola B
Eur J Hum Genet; 2003 Apr; 11(4):349-51. PubMed ID: 12700609
[TBL] [Abstract][Full Text] [Related]
13. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.
Funke B; Pandita RK; Morrow BE
Genomics; 2001 May; 73(3):264-71. PubMed ID: 11350118
[TBL] [Abstract][Full Text] [Related]
14. The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.
Fagman H; Liao J; Westerlund J; Andersson L; Morrow BE; Nilsson M
Hum Mol Genet; 2007 Feb; 16(3):276-85. PubMed ID: 17164259
[TBL] [Abstract][Full Text] [Related]
15. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
Aggarwal VS; Liao J; Bondarev A; Schimmang T; Lewandoski M; Locker J; Shanske A; Campione M; Morrow BE
Hum Mol Genet; 2006 Nov; 15(21):3219-28. PubMed ID: 17000704
[TBL] [Abstract][Full Text] [Related]
16. Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
Sabherwal N; Schneider KU; Blaschke RJ; Marchini A; Rappold G
J Cell Sci; 2004 Jun; 117(Pt 14):3041-8. PubMed ID: 15173321
[TBL] [Abstract][Full Text] [Related]
17. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
Chieffo C; Garvey N; Gong W; Roe B; Zhang G; Silver L; Emanuel BS; Budarf ML
Genomics; 1997 Aug; 43(3):267-77. PubMed ID: 9268629
[TBL] [Abstract][Full Text] [Related]
18. Activation of transcriptional activities of AP1 and SRE by a novel zinc finger protein ZNF445.
Luo K; Yuan J; Shan Y; Li J; Xu M; Cui Y; Tang W; Wan B; Zhang N; Wu Y; Yu L
Gene; 2006 Feb; 367():89-100. PubMed ID: 16368201
[TBL] [Abstract][Full Text] [Related]
19. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Zweier C; Sticht H; Aydin-Yaylagül I; Campbell CE; Rauch A
Am J Hum Genet; 2007 Mar; 80(3):510-7. PubMed ID: 17273972
[TBL] [Abstract][Full Text] [Related]
20. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
Guris DL; Fantes J; Tara D; Druker BJ; Imamoto A
Nat Genet; 2001 Mar; 27(3):293-8. PubMed ID: 11242111
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]