SCI Spotlight Newsletter March 2024
SCI Spotlight Newsletter February 2024
SCI Spotlight Newsletter January 2024
Recall – Vigabatrin for Oral Solution USP
TOPIC:Â Vigabatrin for Oral Solution USP, 500 mg by InvaGen Pharmaceuticals:Â Recall – Due to Leaking Sachets AUDIENCE:Â Patient, Health Professional, Pharmacy, Pediatric, Neurology ISSUE:Â InvaGen Pharmaceuticals is recalling one lot, NB301030, of Vigabatrin for...Additional Information
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- Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism
- Research
- The behavioral phenotype of the idic(15) syndrome
- Newsletter
- The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
- Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
- Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder
- A survey of seizures and current treatments in 15q duplication syndrome
- The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
- Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns
- Increased copy number for methylated 15q duplications leads to changes in gene and protein expression in human cortical samples
- Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
- A longitudinal follow-up study of autistic symptoms in children and adults with duplications of 15q11-13
- Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
- Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
- Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?
- Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
- Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
- The inv dup(15) or idic(15) syndrome: a clinically recognizable neurogenetic disorder
- Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy
- High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization with detection of gene dosage
- Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
- Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13
- Estimate of the prevalence of chromosome 15q11-q13 duplications
- Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
- Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
- Estimate of prevalence of proximal 15q duplication syndrome
- Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
- Rearrangements of chromosome 15 in epilepsy
- The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
- Relationship between clinical and genetic features in inverted duplicated chromosome 15 patients
- The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings
- Genetic studies in autistic disorder and chromosome 15
- Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
- Autistic symptoms among children and young adults with isodicentric chromosome 15
- Autism and maternally derived aberrations of chromosome 15q
- The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
- Autism or atypical autism in maternally but not paternally derived proximal 15q duplication