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Results: 1 to 20 of 178

1.

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
[PubMed - indexed for MEDLINE]
2.

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. Epub 2004 Jun 9.

PMID:
15190012
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
11239417
[PubMed - indexed for MEDLINE]
Free Article
4.

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.

Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schüler T, Schorle H, Brown MC, Adams J, Morrow BE.

Hum Mol Genet. 2001 Oct 15;10(22):2549-56.

PMID:
11709542
[PubMed - indexed for MEDLINE]
Free Article
5.

Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.

Ryckebüsch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S.

Circ Res. 2010 Mar 5;106(4):686-94. doi: 10.1161/CIRCRESAHA.109.205732. Epub 2010 Jan 28.

PMID:
20110535
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. Epub 2008 Jun 26.

PMID:
18583714
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
11242111
[PubMed - indexed for MEDLINE]
10.

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.

Huh SH, Ornitz DM.

Development. 2010 Apr;137(7):1137-47. doi: 10.1242/dev.045534.

PMID:
20215350
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.

Wakamiya M, Lindsay EA, Rivera-Pérez JA, Baldini A, Behringer RR.

Hum Mol Genet. 1998 Nov;7(12):1835-40.

PMID:
9811926
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
15652707
[PubMed - indexed for MEDLINE]
Free Article
15.

Role of TBX1 in human del22q11.2 syndrome.

Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R.

Lancet. 2003 Oct 25;362(9393):1366-73.

PMID:
14585638
[PubMed - indexed for MEDLINE]
16.

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 1;43(3):267-77.

PMID:
9268629
[PubMed - indexed for MEDLINE]
17.

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 1;14(7):885-92. Epub 2005 Feb 9.

PMID:
15703190
[PubMed - indexed for MEDLINE]
Free Article
18.

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE.

Development. 2006 Mar;133(5):977-87. Epub 2006 Feb 1.

PMID:
16452092
[PubMed - indexed for MEDLINE]
Free Article
19.

In vivo response to high-resolution variation of Tbx1 mRNA dosage.

Zhang Z, Baldini A.

Hum Mol Genet. 2008 Jan 1;17(1):150-7. Epub 2007 Oct 4.

PMID:
17916582
[PubMed - indexed for MEDLINE]
Free Article
20.

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

Long JM, LaPorte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A.

Neurogenetics. 2006 Nov;7(4):247-57. Epub 2006 Aug 10.

PMID:
16900388
[PubMed - indexed for MEDLINE]

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