Current Research

Meier Gorlin syndrome genotypephenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis 

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the Vascular Phenotype 

MOPDII: Natural History and Clinical Findings 

Pericentrin in cellular function and disease 

Long-term outcomes in children with moyamoya syndrome 

STA-MCA surgery for Moyamoya 

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism 

Microcephalic Osteodysplastic Primordial Dwarfism With Severe Microdontia and Skin Anomalies 

Apparently New Osteodysplastic and Primordial Short Stature With Severe Microdontia, Opalescent Teeth, and Rootless Molars in Two Siblings 

Multiple Intracranial Aneurysms & Moyamoya Disease associated with MOPDII 

Genetic Defects in Human Pericentrin Are Associated with Severe Insulin Resistance and Diabetes 

Mutations in the pre-replication complex cause Meier-Gorlin syndrome-Abstract 

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome-Abstract 

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