A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

[HTML][HTML] Homeobox genes in embryogenesis and pathogenesis

M Mark, FM Rijli, P Chambon - Pediatric research, 1997 - nature.com
The homeobox, a 60-amino acid-encoding DNA sequence, originally discovered in the
genome of the fruit fly Drosophila, was subsequently identified throughout the three …

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

EV Semina, R Reiter, NJ Leysens, WLM Alward… - Nature …, 1996 - nature.com
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies
of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report …

Bone morphogenetic proteins (BMPs) as regulators of dorsal forebrain development

Y Furuta, DW Piston, BLM Hogan - Development, 1997 - journals.biologists.com
ABSTRACT Bone Morphogenetic Proteins (BMPs) play crucial roles in a variety of
developmental processes, but their functions during early vertebrate brain development are …

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

MT Dattani, JP Martinez-Barbera, PQ Thomas… - Nature …, 1998 - nature.com
During early mouse development the homeobox gene Hesx1 is expressed in prospective
forebrain tissue, but later becomes restricted to Rathke's pouch, the primordium of the …

Classification system for malformations of cortical development: update 2001

AJ Barkovich, RI Kuzniecky, GD Jackson, R Guerrini… - Neurology, 2001 - AAN Enterprises
The many recent discoveries concerning the molecular biologic bases of malformations of
cortical development and the discovery of new such malformations have rendered previous …

Emx1 and Emx2 functions in development of dorsal telencephalon

M Yoshida, Y Suda, I Matsuo, N Miyamoto… - …, 1997 - journals.biologists.com
ABSTRACT The genes Emx1 and Emx2 are mouse cognates of a Drosophila head gap
gene, empty spiracles, and their expression patterns have suggested their involvement in …

[HTML][HTML] Neurogenesis and the cell cycle

S Ohnuma, WA Harris - Neuron, 2003 - cell.com
For a long time, it has been understood that neurogenesis is linked to proliferation and thus
to the cell cycle. Recently, the gears that mediate this linkage have become accessible to …

Malformations of cortical development and epilepsy

RJ Leventer, R Guerrini, WB Dobyns - Dialogues in clinical …, 2008 - Taylor & Francis
Malformations of cortical development (MCDs) are macroscopic or microscopic
abnormalities of the cerebral cortex that arise as a consequence of an interruption to the …

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

C Lo Nigro, SS Chong, ACM Smith… - Human molecular …, 1997 - academic.oup.com
Classical lissencephaly (smooth brain) or generalized agyriapachygyria is a severe brain
malformation which results from an arrest of neuronal migration at 9–13 weeks gestation. It …