Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by
haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11. 2 …

Brain-derived neurotrophic factor (BDNF) is a neurotrophin that plays a fundamental role in
development and plasticity of the central nervous system (CNS). It is currently recognized as …

Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor
chromosomal microdeletions, yet the individual genetic contributors within these regions …

Copy number variation (CNV) contributes to disease and has restructured the genomes of
great apes. The diversity and rate of this process, however, have not been extensively …

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive
physical features, developmental delay, cognitive impairment, and a typical behavioral …

Context The hypothalamic melanocortin 4 receptor (MC4R) pathway serves a critical role in
regulating body weight. Loss of function (LoF) mutations in the MC4R pathway, including …

This study aimed to determine the prevalence of problem behaviors in adults with
intellectual disabilities and to investigate which factors are independently associated with …

Smith–Magenis syndrome (SMS) is a multisystem multiple congenital anomaly/intellectual
disability disorder commonly caused by de novo interstitial deletion of chromosome 17p11 …

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in
seven genetic syndromes; Angelman (AS; n= 104), Cri du Chat (CdCS; 58), Cornelia de …

Abstract Retinoic acid-induced 1 (RAI1) haploinsufficiency causes Smith–Magenis
syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia …