An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

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

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL 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

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

(2008) Chiara Floris et al.   EUROPEAN JOURNAL OF HUMAN 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