5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara 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

5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

(2010) Herbert Ezugha et al.   JOURNAL OF CHILD NEUROLOGY

A Novel Association betweenRASA1Mutations and Spinal Arteriovenous Anomalies

(2009) R. Thiex et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

From germline towards somatic mutations in the pathophysiology of vascular anomalies

(2009) N. Limaye et al.   HUMAN MOLECULAR 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

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations

(2008) D. Hershkovitz et al.   BRITISH JOURNAL OF DERMATOLOGY

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

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

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

(2008) Nicole Revencu et al.   HUMAN MUTATION

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

(2008) C. Cardoso et al.   NEUROLOGY