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Items: 1 to 20 of 171

1.

DiGeorge syndrome: an update.

Baldini A.

Curr Opin Cardiol. 2004 May;19(3):201-4. Review.

PMID:
15096950
2.

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.

Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A.

Nature. 2001 Mar 1;410(6824):97-101.

PMID:
11242049
3.

Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis.

Morishima M, Yanagisawa H, Yanagisawa M, Baldini A.

Dev Dyn. 2003 Sep;228(1):95-104.

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 Jan-Mar;49(1):61-8.

PMID:
17479646
5.

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.

Jerome LA, Papaioannou VE.

Nat Genet. 2001 Mar;27(3):286-91.

PMID:
11242110
6.

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Scambler PJ.

Pediatr Cardiol. 2010 Apr;31(3):378-90. doi: 10.1007/s00246-009-9613-0. Review.

PMID:
20054531
8.

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.

Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE.

Hum Mol Genet. 2004 Aug 1;13(15):1577-85.

9.

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.

Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A.

Hum Mol Genet. 2002 Apr 15;11(8):915-22.

10.

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R.

Cell. 2001 Feb 23;104(4):619-29.

11.

Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome.

Stalmans I.

Verh K Acad Geneeskd Belg. 2005;67(4):229-76. Review.

PMID:
16334858
12.

The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning.

Théveniau-Ruissy M, Dandonneau M, Mesbah K, Ghez O, Mattei MG, Miquerol L, Kelly RG.

Circ Res. 2008 Jul 18;103(2):142-8. doi: 10.1161/CIRCRESAHA.108.172189.

13.

Dissecting contiguous gene defects: TBX1.

Baldini A.

Curr Opin Genet Dev. 2005 Jun;15(3):279-84. Review.

PMID:
15917203
14.

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.

15.

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 1;16(3):276-85.

16.

Fgf15 is required for proper morphogenesis of the mouse cardiac outflow tract.

Vincentz JW, McWhirter JR, Murre C, Baldini A, Furuta Y.

Genesis. 2005 Apr;41(4):192-201.

PMID:
15789410
17.

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.

Zhang Z, Cerrato F, Xu H, Vitelli F, Morishima M, Vincentz J, Furuta Y, Ma L, Martin JF, Baldini A, Lindsay E.

Development. 2005 Dec;132(23):5307-15. Erratum in: Development. 2005;132(24):5614.

18.

Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion.

Takahashi K, Kuwahara T, Nagatsu M.

Cardiol Young. 1999 Sep;9(5):516-8.

PMID:
10535835
19.

Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling.

Nie X, Brown CB, Wang Q, Jiao K.

Cells Tissues Organs. 2011;193(6):393-403. doi: 10.1159/000321170.

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