Raymond Tu
We have a research interest in relating imaging with genomics. Our brief review article, “Genetics of Von Hippel-Lindau Disease,” is an educational review for the radiologist to help link genotypes with imaging phenotypes.
Von Hippel-Lindau (VHL) disease is particularly interesting in that both molecular genetic sequencing and imaging play crucial roles in disease … more »
Alireza Radmanesh
Over the past decade, advances in MRI techniques and molecular biology have revolutionized our understanding of brain malformations. During this time, classifications for developmental malformations of the cortex, or those of the midbrain and hindbrain, have undergone a few revisions in light of the evolving understanding of their molecular mechanisms.1,2
In the early part of … more »
Jun-ichi Takanashi
CASK belongs to the membrane-associated guanylate kinase protein family, which transfers phosphorus-containing groups (phosphotransferases) with a phosphate group as an acceptor; this is an important function during neuronal development. CASK regulates gene expression by interacting with a nucleosome assembly protein (CINAP) and the transcription factor TBR1 to form a complex that induces … more »
Mehmet N. Cizmeci
Our multicenter, observational study on RASopathies, was the first study to describe cranial MRI findings in infants with a RASopathy, and our starting point was an observation that the infants with Noonan syndrome had a very characteristic, steep tentorial configuration. Briefly, RASopathies are a group of rare genetic conditions with overlapping phenotypic features.1 … more »
James Barkovich
I chose the topic of disorders of microtubule function because I was seeing a lot of patients with brain malformations due to mutations of tubulin genes (such as TUBA1A, TUBB2B, TUBG1, etc.) and microtubule-associated protein (MAP) genes (such as DCX, LIS1, and DYNCH1H1) and saw that they had … more »
Emmy Verheij
Although it is a relatively unknown syndrome, 22q11.2 deletion syndrome occurs rather frequently. The prevalence is estimated at 1: 2,000 – 4,000 live births. The great variability in phenotype makes it a very scientifically interesting syndrome because many different organs can be impacted. Balance disorder is one of the described features in this syndrome … more »