TBX5 mutations associated with extensive phenotypic heterogeneity in Holt-Oram syndrome.

被引：0
|
作者：
Wang, Q
Duhagon, MA
Canessa, R
Chen, S
Oberti, C
机构：
[1] Cleveland Clin Fdn, Ctr Mol Genet, Cleveland, OH 44195 USA
[2] Cleveland Clin Fdn, Dept Mol Cardiol, Cleveland, OH 44195 USA
[3] Cleveland Clin Fdn, Dept Cardiol, Cleveland, OH 44195 USA
[4] Hosp Italiano, Inst Cardiol, Montevideo, Uruguay
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
43
引用
收藏
页码：184 / 184
页数：1
相关论文
共 50 条
  • [1] TBX5 mutations in Holt-Oram syndrome.
    Brook, JD
    Li, QY
    Yi, CH
    Armstrong-Buisseret, L
    Young, ID
    Newbury-Ecob, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A148 - A148
  • [2] Novel TBX5 mutations in patients with Holt-Oram syndrome
    Debeer, Philippe
    Race, Valerie
    Gewillig, Marc
    Devriendt, Koen
    Frijns, Jean-Pierre
    CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 2007, (462) : 20 - 26
  • [3] Functional analysis of TBX5 missense mutations associated with holt-oram syndrome
    Fan, C
    Liu, MG
    Wang, Q
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (10) : 8780 - 8785
  • [4] Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
    Porto, Marianna P. R.
    Vergani, Naja
    Carvalho, Antonio Carlos C.
    Cernach, Mirlene C. S. P.
    Brunoni, Decio
    Perez, Ana Beatriz A.
    GENETICS AND MOLECULAR BIOLOGY, 2010, 33 (02) : 232 - 236
  • [5] Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome
    Heinritz, W
    Moschik, A
    Kujat, A
    Spranger, S
    Heilbronner, H
    Demuth, S
    Bier, A
    Tihanyi, M
    Mundlos, S
    Gruenauer-Kloevekorn, C
    Froster, UG
    HEART, 2005, 91 (03) : 383 - 384
  • [6] Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome
    Yang, JF
    Hu, DX
    Xia, JH
    Yang, YF
    Ying, BL
    Hu, JG
    Zhou, XM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (04): : 237 - 240
  • [7] TBX5 mutations and congenital heart disease:: Holt-Oram syndrome revealed
    Mori, AD
    Bruneau, BG
    CURRENT OPINION IN CARDIOLOGY, 2004, 19 (03) : 211 - 215
  • [8] Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype
    Brassington, AME
    Sung, SS
    Toydemir, RM
    Le, T
    Roeder, AD
    Rutherford, AE
    Whitby, FG
    Jorde, LB
    Bamshad, MJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) : 74 - 85
  • [9] Mutation analysis of TBX5 in families with Holt-Oram syndrome: novel mutations, polymorphism and the absence of TBX5 mutations.
    Zaragoza, M
    Sun, G
    Price, C
    Seidman, J
    Seidman, C
    Huang, T
    GENETICS IN MEDICINE, 2004, 6 (04) : 315 - 315
  • [10] Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
    Ghosh, TK
    Packham, EA
    Bonser, AJ
    Robinson, TE
    Cross, SJ
    Brook, JD
    HUMAN MOLECULAR GENETICS, 2001, 10 (18) : 1983 - 1994
12345