Congenital heart disease: emerging themes linking genetics and development.
Congenital heart disease: emerging themes linking genetics and development.
复制标题
DOI：
10.1016/j.gde.2013.05.004
复制
发表时间：
2013-06
影响因子：
4
通讯作者：
Brueckner, Martina
中科院分区：
文献类型：
--
作者：
Yuan, Shiaulou;Zaidi, Samir;Brueckner, Martina
Although congenital heart disease (CHD) is the most common survivable birth defect, the etiology of most CHD remains unclear. Several lines of evidence from humans and vertebrate models have supported a genetic component for CHD, yet the extreme locus heterogeneity and lack of a distinct genotype-phenotype correlation has limited causative gene discovery. However, recent advances in genomic technologies are permitting detailed evaluation of the genetic abnormalities in large cohorts of CHD patients. This has lead to the identification of copy-number variation and de-novo mutations together accounting for up to 15% of CHD. Further, new strategies coupling human genetics with model organisms have provided mechanistic insights into the molecular and developmental pathways underlying CHD pathogenesis, notably chromatin remodeling and ciliary signaling.
登录
查看更多内容
基因型和心血管表型与TBX1的相关性在1,022个天线 - 核对面/digeorge/22q11.2缺失综合征患者中。
影响因子：
3.9
作者：
Guo, Tingwei;McDonald-McGinn, Donna;Blonska, Anna;Shanske, Alan;Bassett, Anne S.;Chow, Eva;Bowser, Mark;Sheridan, Molly;Beemer, Frits;Devriendt, Koen;Swillen, Ann;Breckpot, Jeroen;Digilio, Maria C.;Marino, Bruno;Dallapiccola, Bruno;Carpenter, Courtney;Zheng, Xin;Johnson, Jacob;Chung, Jonathan;Higgins, Anne Marie;Philip, Nicole;Simon, Tony J.;Coleman, Karlene;Heine-Suner, Damian;Rosell, Jordi;Kates, Wendy;Devoto, Marcella;Goldmuntz, Elizabeth;Zackai, Elaine;Wang, Tao;Shprintzen, Robert;Emanuel, Beverly;Morrow, Bernice
通讯作者：
Morrow, Bernice
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
30.8
作者：
Hoischen, Alexander;van Bon, Bregje W. M.;Veltman, Joris A.
通讯作者：
Veltman, Joris A.
影响因子：
20.1
作者：
Fahed AC;Gelb BD;Seidman JG;Seidman CE
通讯作者：
Seidman CE
影响因子：
64.8
作者：
Garg, V;Muth, AN;Srivastava, D
通讯作者：
Srivastava, D