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

artículo científico publicado en 2012

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

artículo científico publicado en 2009

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

scientific article published on 26 March 2009

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

artículo científico publicado en 2014

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Replicative mechanisms for CNV formation are error prone

scientific article published on 22 September 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism ⬇️

artículo científico publicado el 20 de noviembre de 2012

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