Kênia Balbi El-Jaick

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers

Yongsu Jeong, Kênia Balbi El-Jaick, Erich Roessler et al. · Development · 2006 · 233 citations · Full text

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Yongsu Jeong, Federico Coluccio Leskow, Kênia Balbi El-Jaick et al. · Nature Genetics · 2008 · 203 citations · Full text

Transcriptional Regulation, Developmental Biology, Molecular Regulation +4

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg et al. · Human Mutation · 2009 · 86 citations · Full text

Genetics, Disease Gene Identification, Signaling Pathway +17

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Sabina Domené, Erich Roessler, Kênia Balbi El-Jaick et al. · Human Molecular Genetics · 2008 · 57 citations · Full text

Developmental Biology, Hpe Pathogenesis, Genetic Disorder +12