DiGeorge's syndrome: a gene at last

被引：15

作者：

Baldini, A ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Pediat Cardiol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Ctr Cardiovasc Dev, Houston, TX 77030 USA

来源：

LANCET | 2003年 / 362卷 / 9393期

关键词：

SYNDROME REGION; TBX1; GENE; DEFECTS; MICE;

D O I：

10.1016/S0140-6736(03)14671-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1342 / 1343

页数：2

共 9 条

[1] Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene [J].

Chieffo, C ;

Garvey, N ;

Gong, WL ;

Roe, B ;

Zhang, GZ ;

Silver, L ;

Emanuel, BS ;

Budarf, ML .

GENOMICS, 1997, 43 (03) :267-277

[2] DiGeorge subtypes of nonsyndromic conotruncal defects:: evidence against a major role of TBX1 Gene [J].

Conti, E ;

Grifone, N ;

Sarkozy, A ;

Tandoi, C ;

Marino, B ;

Digilio, MC ;

Mingarelli, R ;

Pizzuti, A ;

Dallapiccola, B .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (04) :349-351

[3]

Gong W, 2001, J Med Genet, V38, pE45, DOI 10.1136/jmg.38.12.e45

[4] DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 [J].

Jerome, LA ;

Papaioannou, VE .

NATURE GENETICS, 2001, 27 (03) :286-291

[5] Chromosomal microdeletions:: Dissecting del22q11 syndrome [J].

Lindsay, EA .

NATURE REVIEWS GENETICS, 2001, 2 (11) :858-868

[6] Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice [J].

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, 410 (6824) :97-101

[7] Congenital heart disease in mice deficient for the DiGeorge syndrome region [J].

Lindsay, EA ;

Botta, A ;

Jurecic, V ;

Carattini-Rivera, S ;

Cheah, YC ;

Rosenblatt, HM ;

Bradley, A ;

Baldini, A .

NATURE, 1999, 401 (6751) :379-383

[8] TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome [J].

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, 104 (04) :619-629

[9] The 22q11 deletion syndromes [J].

Scambler, PJ .

HUMAN MOLECULAR GENETICS, 2000, 9 (16) :2421-2426

← 1 →