Clinical and neurocognitive characterization of a family with a novelMED12gene frameshift mutation

Mutations in MED12 Cause X-Linked Ohdo Syndrome

(2013) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

(2010) P Rump et al.   CLINICAL GENETICS

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

(2010) VICTORIA LEGGETT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

(2010) Patrice Roll et al.   PLoS One

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

(2009) Robin Dawn Clark et al.   GENETICS IN MEDICINE

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in theMED12gene

(2008) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mediator Links Epigenetic Silencing of Neuronal Gene Expression with X-Linked Mental Retardation

(2008) Ning Ding et al.   MOLECULAR CELL