Latest papers

A novel SIX3 mutation segregates with holoprosencephaly in a large family

Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems.

Disorders of prosencephalic development.

Sonoembryology and early prenatal diagnosis of neural anomalies.

Mesiodens, a new microform of holoprosencephaly?

Alobar holoprosencephaly.

Sensory function in severe semilobar holoprosencephaly.

Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain

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

Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect.

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Prenatal ultrasonographic findings in trisomy 13.

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.

Surgical correction of Tessier number 0 cleft.

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.

Prenatal diagnosis of solitary median maxillary central incisor syndrome by magnetic resonance imaging.

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Exploring 3-dimensional imaging techniques in the prenatal interrogation of cebocephaly.

Semilobar holoprosencephaly in Seckel syndrome.