Concepedia

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease

Akiko Yoshida, Hiroko Morisaki, Mai Nakaji, Masataka Kitano, Ki‐Sung Kim, Koichi Sagawa, Shiro Ishikawa, Ichiro Satokata, Yoshihide Mitani, Hitoshi Kato,

Journal of Human Genetics · 2015 · 37 citations · 37 references

DOI

Concepts

References

37

Congenital Heart Disease Caused by Mutations in the Transcription Factor <i>NKX2-5</i>

Jean‐Jacques Schott, D. Woodrow Benson, Craig T. Basson et al. · Science · 1998 · 1.3K citations

, , +17

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

Vidu Garg, Irfan S. Kathiriya, R. Bowling Barnes et al. · Nature · 2003 · 1.2K citations

, , +14

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson, David R. Bachinsky, Robert C. Lin et al. · Nature Genetics · 1997 · 1.1K citations

, , +16

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, Andrew R.J. Curtis et al. · Nature Genetics · 1997 · 929 citations

, , +8

Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

, , +3