Kicho, INC and Dup15q Alliance Partnership
Sci Spotlight- February 2025
Updates from the Director of Scientific & Clinical Initiatives February 2025 February has been a challenging month for science in America. Cuts to NIH funding have threatened scientific research, including for Dup15q syndrome. In the past few weeks, I have been...Sci Spotlight Draft
Updates from the Director of Scientific & Clinical Initiatives August 2024 It is my pleasure to introduce myself as the new full-time Director of Scientific and Clinical Initiatives with the Dup15q Alliance! The Dup15q community has been a part of my life for...
FDA Issues Recall On Clonazepam Orally Disintegrating Tablets
The Dup15q Alliance is aware of the recent release by the FDA regarding Clonazepam Orally Disintegrating Tablets USP by Endo USA due to potential product carton strength mislabeling. Ongoing investigation identified the possibility that the affected clonazepam product...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