Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy

(2018) Fang Yuan et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle

(2018) Cai-Xia Lu et al.   PEDIATRIC CARDIOLOGY

MEF2C loss-of-function mutation contributes to congenital heart defects

(2017) Xiao-Hui Qiao et al.   International Journal of Medical Sciences

Myocyte enhancer factor 2C and its directly-interacting proteins: A review

(2017) Chen Dong et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Prenatal detection of 5q14.3 duplication includingMEF2Cand brain phenotype

(2016) Claudia Cesaretti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

(2016) Helena Rocha et al.   European Journal of Medical Genetics

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Microdeletion 5q14.3 and anomalies of brain development

(2013) Alrun Hotz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

MEF2Cmutations are a rare cause of Rett or severe Rett-like encephalopathies

(2012) L Lambert et al.   CLINICAL GENETICS

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY

Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo

(2008) H. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA