Diabetic keratopathy (DK) is a common ocular complication of diabetes, characterized by
alteration of the normal wound-healing mechanism, reduction of epithelial …

ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a
neurodevelopmental disorder characterized by hypotonia, developmental delay, and …

Mutations in ADNP result in Helsmoortel–Van der Aa syndrome. Here, we describe the first
de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a …

Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox
(ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations …

Abstract Background Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder
in which patients present with autism, intellectual disability, and frequent extra-neurological …

Abstract Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder
caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; …

Activity-dependent neuroprotective protein (ADNP) is a neuroprotective protein essential for
embryonic development, proper brain development, and neuronal plasticity. Its mutation …

With 50 years to the original discovery of Tau, I gave here my perspective, looking through
the prism of activity‐dependent neuroprotective protein (ADNP), and the influence of sex. My …

Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct
from Nicolaides‐Baraister syndrome that presents with distinct facial features of …

Breakthroughs in next-generation sequencing technologies, most notably whole-exome
sequencing (WES), have increased genetic diagnostic yield. In individuals diagnosed with a …