Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less

Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency-an emerging syndrome?

(2010) Jyoti Krishna et al.   CLINICAL GENETICS

Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations

(2010) Alexander Rodewald et al.   CLINICAL GENETICS

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation

(2010) Margherita Cirillo Silengo et al.   CLINICAL GENETICS

Interstitial deletion in the long arm of chromosome no. 5

(2010) W. Harprecht-Beato et al.   CLINICAL GENETICS

Gangliosides in cerebrospinal fluid in children with autism spectrum disorders

(2010) Viviann Nordin et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE

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

(2008) C. Cardoso et al.   NEUROLOGY

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

(2008) A. C. Barbosa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Towards a neuroanatomy of autism: A systematic review and meta-analysis of structural magnetic resonance imaging studies

(2007) Andrew C. Stanfield et al.   EUROPEAN PSYCHIATRY