MED12related disorders

Mutations in MED12 Cause X-Linked Ohdo Syndrome

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

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

(2013) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata)

(2013) Ralf J. Rieker et al.   PATHOLOGY

Xq12-q13.3 duplication: Evidence of a recurrent syndrome

(2012) Paolo Prontera et al.   ANNALS OF NEUROLOGY

Recent developments in uterine mesenchymal neoplasms

(2012) Sarah Chiang et al.   HISTOPATHOLOGY

Prevalence ofMED12mutations in uterine and extrauterine smooth muscle tumours

(2012) Akiko Matsubara et al.   HISTOPATHOLOGY

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

(2012) Christopher E Barbieri et al.   NATURE GENETICS

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

(2012) H. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel X-linked disorder with developmental delay and autistic features

(2011) Namik Kaya et al.   ANNALS OF NEUROLOGY

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome)

(2010) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2010) P Rump et al.   CLINICAL GENETICS

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

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

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

(2008) Ning Ding et al.   MOLECULAR CELL