Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome.
Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1
Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1 Nature. 2017 Mar 23;543(7646):507-512. doi: 10.1038/nature21678. Epub 2017 Mar 15. Krishnan V1, Stoppel DC1,2,3, Nong Y1,2, Johnson MA1,2, Nadler MJ1,2, Ozkaynak E1,2, Teng BL1,2, Nagakura...
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism Neelroop N. Parikshak, Vivek Swarup, T. Grant Belgard, Manuel Irimia, Gokul Ramaswami, Michael J. Gandal, Christopher Hartl, Virpi Leppa, Luis de la Torre Ubieta, Jerry...Additional Information
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- Angelman-Syndrom und Dup15q-Syndrom: Zwei seltene Krankheiten, die zusammenarbeiten, um die Rätsel des anderen zu lösen – ein Gespräch mit Jill Silverman und Nathalie Buscher
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- Eltern berichtete Schmerzunempfindlichkeit bei Dup15q
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- Eine Autismus-verknüpfte Mutation deaktiviert die Phosphorylierungskontrolle von UBE3A
- Understanding Dup15q
- Magen-Darm-Probleme bei 15q Duplikationssyndrom
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- Genexpressionsanalyse von humaninduzierten pluripotenten Stammzell-abgeleiteten Neuronen mit Kopiernummernvarianten des Chromosoms 15q11-q13.1
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- Hippocampal Abnormalitäten in der Magnetresonanztomographie (MRT) von 15q Duplizierungssyndromen
- Erhöhte Gendosis von Ube3a führt zu Autismus-Merkmalen und verminderter synaptischer Glutamat-Übertragung bei Mäusen
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- Abnormale intrazelluläre Akkumulation und extrazelluläre A-Deposition bei idiopathischen und Dup15q11.2-q13 Autismus-Spektrum-Störungen
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- Autistische Störung im Zusammenhang mit einer väterlich abgeleiteten unausgewogenen Translokation, die zu einer Duplizierung des Chromosoms 15pter-q13.2 führt: ein Fallbericht
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- Published Articles Related to Dup15q Syndrome
- 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
- The behavioral phenotype of the idic(15) syndrome
- 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
- Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism
- 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
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