Transcription pause-release is an important, highly regulated step in the control of gene
expression. Modulated by various factors, it enables signal integration and fine-tuning of …

Abstract Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous
condition characterized by congenital malformation, intellectual disability, and peculiar …

Microcephaly and macrocephaly are overrepresented in individuals with autism and are
thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray …

Submicroscopic deletions in chromosome 19 have been rarely reported. We reported a
male patient presenting with neurodevelopmental delay and facial dysmorphisms with a de …

Only few copy number variants at chromosome 19p13. 11 have been reported, thus
associated clinical information is scarce. Proximal to these copy number losses, we now …

Abstract Proximal 19p13. 12 microdeletion has been rarely reported. Only five postnatal
cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping …

A small number of recent papers have described individuals with intellectual disabilities and
microdeletions in chromosome band 19p13. 2. However, little is known about the behavioral …

Acetylation of lysine residues is a histone modification associated with active chromatin. The
modified residues provide docking sites for the epigenetic reader BRD4, which binds to the …