A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation

(2011) S. Mayo et al.   CYTOGENETIC AND GENOME RESEARCH

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

(2011) Ute Grasshoff et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Challenges in clinical interpretation of microduplications detected by array CGH analysis

(2010) Pawel Stankiewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

(2010) P Makrythanasis et al.   CLINICAL GENETICS

MECP2 duplications in six patients with complex sex chromosome rearrangements

(2010) Amy M Breman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

The clinical variability of theMECP2duplication syndrome: description of two families with duplications excludingL1CAMandFLNA

(2009)   CLINICAL GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

(2009) Bernard Echenne et al.   PEDIATRIC NEUROLOGY

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

(2008) R. C. Samaco et al.   HUMAN MOLECULAR GENETICS

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice

(2008) Bredford Kerr et al.   HUMAN MOLECULAR GENETICS

MECP2 genomic structure and function: insights from ENCODE

(2008) J. Singh et al.   NUCLEIC ACIDS RESEARCH

Extreme Clonality in Lymphoblastoid Cell Lines with Implications for Allele Specific Expression Analyses

(2008) Vincent Plagnol et al.   PLoS One

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE