Y. Ciribilli

Publication List Details

Period

2008 - 2009

Number

2

Co-Authors

A functional genetic study identifies HAND1 mutations in septation defects of the human heart (2009)

Reamon-Buettner, S.M., Ciribilli, Y., Traverso, I., Kuhls, B., Inga, A., Borlak, J.

HAND1 is a basic helix-loop-helix (bHLH) transcription factor essential for mammalian heart development. Absence of Hand1 in mice results in embryonal lethality, as well as in a wide spectrum of...

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts (2008)

Reamon-Büttner, S.M., Ciribilli, Y., Inga, A., Borlak, J.

Hypoplasia of the human heart is the most severe form of congenital heart disease (CHD) and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in infants...