Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Expanding the clinical picture of theMECP2Duplication syndrome

(2016) Z. Lim et al.   CLINICAL GENETICS

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

(2016) Sophie Lambert et al.   European Journal of Medical Genetics

Large national series of patients with Xq28 duplication involvingMECP2: Delineation of brain MRI abnormalities in 30 affected patients

(2015) Salima El Chehadeh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

(2015) Michael Bauer et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Altered neuronal network and rescue in a human MECP2 duplication model

(2015) S Nageshappa et al.   MOLECULAR PSYCHIATRY

MECP2duplication: Possible cause of severe phenotype in females

(2014) Jessica Scott Schwoerer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region

(2014) Fang Fu et al.   GENE

MECP2 duplication syndrome in both genders

(2012) Shino Shimada et al.   BRAIN & DEVELOPMENT

Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

(2012) Aglaia Vignoli et al.   EPILEPSIA

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

(2012) E.K. Bijlsma et al.   European Journal of Medical Genetics

Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses

(2012) T. Yang et al.   Science Translational Medicine

MeCP2: structure and functionThis paper is one of a selection of papers published in a Special Issue entitled 31st Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

(2011) Nicholas L. Adkins et al.   Biochemistry and Cell Biology

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

Analysis of MECP2 Gene Copy Number in Boys With Autism

(2011) Chun-Yan Xi et al.   JOURNAL OF CHILD NEUROLOGY

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

(2010) Raquel M Fernández et al.   BMC Medical Genetics

The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders

(2010) Michael L. Gonzales et al.   Current Psychiatry Reports

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

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

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

(2009) Bernard Echenne et al.   PEDIATRIC NEUROLOGY

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

(2008) Jill Clayton-Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

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

(2008) M. Chahrour et al.   SCIENCE