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Patients with the 15q11.2 BP1–BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances… Expand Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis… Expand In recent years, several recurrent copy number variations (CNVs) that confer risk of neurodevelopmental disorders have been… Expand While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic… Expand Behavioural differences have been described in patients with type I deletions (between breakpoints 1 and 3 (BP1-BP3)) or type II… Expand We used microarray analysis to identify renal cell transcripts that were upregulated with low magnesium. One transcript… Expand Goytain A, Hines RM, Quamme GA. Functional characterization of NIPA2, a selective Mg transporter. Am J Physiol Cell Physiol 295… Expand Prader-Willi syndrome is a neurodevelopmental disorder that is characterized by infantile hypotonia, feeding difficulties… Expand Angelman syndrome (AS) can result from either a 15q11–q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A… Expand Prader-Willi and Angelman syndromes (PWS and AS) typically result from an approximately 4-Mb deletion of human chromosome 15q11… Expand