Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Background: PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q13 genomic region, including the deletion of .

[The Design, Synthesis, Characteristics and Photoelectric Properties Research of A Bulky Steric Hindrance 9-Phenyl-Fluorene Functionalized Aniline Intermediate].

In this paper, with sulfuric acid as a catalyst and acetic acid as solution at the temperature of 120 ℃ and refluxing period for 24 hours, a sterically hindered bulky 9,9-diarylfluorene intermediate of [9-(4-anilino)-9-phenyl-fluorene] had been successfully designed and synthesized with Friedel-Crafts reaction. The molecular structure of this compound was characterized in detail with nuclear magnetic resonance hydrogen spectrum, mass spectrometry, infrared ray, and so on. Nuclear magnetic resonance hydrogen spectrum and infrared ray spectrum of the compound indicated that the characteristic functional group amino of the compound at 6.

Hydrothermal preparation and electrochemical sensing properties of TiO(2)-graphene nanocomposite.

A facile hydrothermal method has been developed and shown to be effective for the preparation of TiO(2)-graphene nanocomposite. The as-prepared nanocomposite was characterized using FT-IR spectroscopy, powder X-ray diffraction (XRD) and scanning electron microscopy (SEM). The TiO(2)-graphene modified glassy carbon electrode (GCE) exhibited remarkable electron transfer kinetics and electrocatalytic activity toward the oxidation of dopamine (DA).